How It's Done

HeredityLab provides ethnicity estimates that reflect how similar your DNA is to populations in a reference panel. Estimates are provided on an ethnic and regional basis, with the ethnic terms reflecting established ethnic groups and the regional terms reflecting regional, subregional, and micro level regions. To achieve this, we used the following steps, which included data gathering, establishing the panel, creation of an inference method, and methodology refinement. The genome is composed of a series of nucleotides, with the position of each nucleotide being particular to certain ethnic groups, and this allows us to reliably predict which segments of your DNA correspond to each of the ethnic groups in our panel.

1. Data Gathering

Representative genomes from worldwide populations were gathered. Information was first collected from the main publicly accessible research data sets. These include, but are not limited to, the 1000 Genomes Project, Human Genome Diversity Project (CEPH-HDGP), International HapMap Project (HapMap3), and the Population Reference Sample Project. To create a stronger reference panel that is inclusive of micro level regions, privately available reference data sets were collected and incorporated into the wider sample set. Following the aggregation of all sample data, samples were clustered through principal component analysis and samples that were not consistent with the characteristics of established clusters were removed. Within the DNA, pairs of alleles (termed ‘genotypes’) are found at different positions (single nucleotide polymorphisms) and the probability of a single genotype appearing at certain positions is dependent on the ethnic group. The likelihood of your DNA segment matching an ethnic group is based on the data of particular genotype locations in relation to that of other ethnic groups.

2. Establishing The Panel

Groups of neighboring SNPs have varying degrees of prevalence depending on population and the occurrence of particular haplotypes was noted for each reference cluster. In order to match parts of your genome with our reference groups, the digital version of your genome is virtually separated into hundreds of small divisions. These virtual divisions (commonly termed ‘windows’) are each examined, matched to groups within the reference panel, then a mathematical model (the Hidden Markov Model) is used to analyze data. Each window of division covers 4-12 centimorgans, and the Hidden Markov Model evaluates ethnicity at each position. The model examines the SNP configurations and is used to find from a statistical standpoint which group the DNA corresponds to. The term ‘haplotype’ refers to segments of adjoining dna within chromosomes that are extremely informative when looking for genetic signatures that correspond to particular ethnic groups. We are comparing the haplotype within each division to those in the reference groups. We used the BEAGLE program, which implements a Hidden Markov model, to create a series of haplotype cluster models and further refine the data. When integrated into our model, haplotype combinations are estimated after being given a set of genotypes. The haplotype cluster model contains clusters of similar haplotypes groupings, with these haplotype clusters being linked to reference groups.

3. Inference Method Created

In order to reliably assign segments of DNA to reference panel groups, models were created to predict the likelihood that each of the haplotypes in each segment belonged to a particular reference group. A multiclass support vector machine algorithm was used to learn the boundaries between reference populations based on the existing data. The SVM assigns each segment to a reference group, while a Hidden Markov Model corrects errors within the output. The HMM is used to assign likelihood of all reference groups to the haplotypes present in your genome, resulting in the most probable ethnic combination with the highest likelihood of being the actual combination. The final ethnic estimate represents the amount of each ethnicity as a portion of the most likely combination.

4. Extensive Refinement of Methods

The results of these algorithms were tested to assess for validity and parameters were redefined as needed. Additional testing was completed until working predictive models were established with a reasonable degree of accuracy. To validate the process, we tested individuals from the reference panel and additional individuals from a separate specially designated panel which was created for testing purposes. The second panel contained samples with known ethnicity and model changes were made until the accuracy of the results reliably entered an acceptable range. Common metrics for the accuracy of results include precision and recall, with precision being the actual amount of the ethnicity divided by the predicted amount, and the recall being the predicted amount divided by the actual amount. High precision systems with low recall have a tendency to assign DNA segments to a particular group only when there is a high level of confidence, but usually leaves a significant amount of DNA unassigned. High recall systems with low precision have a tendency to readily assign DNA segments to reference groups but can be incorrect at times. The continental level has the highest amount of precision, with precision declining as the assignments become more granular. Our system attempts several degrees of classification so low recall is seen where groups are hard to distinguish from others.

How accurate are these values?

Accuracy of Results

Common metrics for the accuracy of results include precision and recall, with precision being the actual amount of the ethnicity divided by the predicted amount, and the recall being the predicted amount divided by the actual amount. High precision systems with low recall have a tendency to assign DNA segments to a particular group only when there is a high level of confidence, but usually leaves a significant amount of DNA unassigned. High recall systems with low precision have a tendency to readily assign DNA segments to reference groups but can be incorrect at times. The continental level has the highest amount of precision, with precision declining as the assignments become more granular. Our system attempts several degrees of classification so low recall is seen where groups are hard to distinguish from others.

Assigning DNA segments to groups in the reference panel is dependent on the models used and all values are approximate values. While the models are created to approximate with as much accuracy as possible, they are not always completely correct and should be viewed as estimates only which have been calculated to the best of our computational ability.  

Purchase Now

About Us

Reference Panel

The following is a list of the groups that are part of the reference panel. Note that the quantity isn’t static and more samples may be added to the list as needed.

Europe: German, Dutch, French (North), French (South), French, Swiss, Breton, Frisian, Cypriot, Albanian, Sicilian, Greek, Serbian, Slovenian, Italian (North), Italian (South), Croatian, Maltese, Sardinian, Sicilian, Bosniak, Corsican, Irish, Welsh, English, Scottish, Swedish, Finnish, Danish, Norwegian, Sami, Latvian, Lithuanian, Estonian, Hungarian, Ashkenazi Jewish, Slovak, Czech, Austrian, Portuguese, Spanish, Basque, Belarusian, Romanian, Bulgarian, Ukrainian, Russian, Polish, Lipka Tatar, Romanian Tatar

Caucasus: Georgian, Armenian, Azeri, Dargin, Adyghe, Ossetian, Kabardian, Abazin, Tatar

West Africa: Sierra Leone, Liberia, Guinea, Kru, Ewe, Wolof, Sahelian, Yoruba, Mandinka, Bambara, Fon, Abron, Akan, Igbo, Nigerian (Central, East), Fulani (Nigeria, Guinea), Mende, Angolan (North, South), Burkina Faso.

Southern Africa: Kalahari Forager (Khoekhoen, San), Botswana (Tswana people), South Africa (Northeast, Southeast), Zimbabwe (Shona people)

East Africa: Kalenjin, Kikuyu, Somali (North, South), Luhya, Sudan (North, Central, South), South Sudan, Maasai, Luo, Merina, Makua, Wolayta, Amhara, Oromo, Tigray, Sidama, Afar, Hadiya

Central Africa: Central African Forager (Mbuti, Biaka), Cameroon (Fang, Bamoun), Congolese West (Anamongo, EsiKongo), Congolese East (Baluba), Central African Republic

Southeast Asia: Filipino (North, South), Indonesian (East, West), Malaysian, Thai, Cambodian (Khmer), Bamar, She, Miao, Filipino, Dayak, Batak, Nyishi, Tangsa, Yi, Lahu, Mon, Vietnamese, Assamese (Bodo Kachari, Rajbongshi).

South Asia: Koli, Bengali, Marathi, Baloch, Uttar Pradesh, Odisha, Karnataka, Pathan, Sindhi, Gujarati, Punjabi, Rajasthani, Malayali, Telugu, Sinhalese, Bhojpuri, Odisha, Nepalese, Punjabi, Makrani, Kho, Bhil, Kannada, Tamil.

The Americas: Inuit, Indigenous North, Indigenous Central Plains, Indigenous Southwest US, Mexican Indigenous North, Mexican Indigenous South, Indigenous Central America, Indigenous Caribbean (Taino), Indigenous South America (Northwest, Andes, Southern Cone, Amazonian).

Oceania: Polynesian, Maori, Melanesian, Polynesian, Aboriginal Australian, Hawaiian, Moluccan, Tahitian, Tonga and Samoa.

East Asia and Siberia: Evenk, Orok, Chinese (North, Central, South), Han, Nashi, Japanese, Yi, She, Korean, Manchu, Tujia, She, Zhuang, Ryukyuan, Nenet

Mideast: Arabian Peninsula (Eastern), Arabian Peninsula (Western), Turkish (West, East, Central, Southeast, Southwest, Northwest), Druze, Lebanese, Egyptian (North, South), Jordanian, Yemeni (Western, Eastern), Syrian (West), Assyrian, Palestinian, Bedouin, Iranian (West, Central, East), Kurdish (West, East), Iraqi (Central, South), Assyrian, Sephardic Jewish, Palestinian Christian, Lebanese Christian, Egyptian Coptic.

North Africa: Algerian, Tunisian, Moroccan (North, South), Libyan (East, West), Berber (Algeria)

The Jewish Diaspora Genetic Test focuses on these Jewish genetic groups: Persian Jewish, Ashkenazi, Eastern Caucasus Jewish, Northern-Central Mesopotamia Jewish, Eastern Maghrebi Jewish (Moroccan, Algerian), Western Maghrebi Jewish (Tunisian, Libyan), Sephardic (Turkey) Jewish, Northern Levantine Jewish, Ethiopian Jewish, Yemeni Jewish, Indian Jewish.

The Central Asian Genetic Test focuses on these groups: Hazara, Kyrgyz, Kazakh, Uzbek (East, West), Uyghur (West, East, Southwest), Pashtun (Afghanistan, Pakistan), Turkmen (Southwest, West, Southeast), Iranian (Northeast, East, Southeast, Central), Mongolian.

Frequently Asked Questions Reference Panel Sample Details

The Latest

Reference Panel Sample Details

The following is a list containing the quantity of samples used per group within the reference panel. Note that the quantities are not fixed, and samples may be added or removed depending on changes we make to the reference panel. We may create some new categories and merge some categories depending on the level of accuracy. The most likely ones to be merged with others are those that have a high degree of overlap or low precision and recall. Also note that some of the categories under the Jewish Genetic Test have a slightly different set of reference panel samples than those same categories under the general reference panel, hence the statistics for precision and recall are different.

In these cases, the values under the Precision column represent how much of the assigned ethnicity is correct, while the values under the Recall column represent how much of the actual ethnicity is assigned by the process. An example for Precision would be if someone who is assigned 80% Makua by the algorithm, but only 40% is actually truly Makua. The precision value in this case would be 0.50. An example for Recall would be someone having 100% Irish ancestry, but only 20% is estimated by the model. In this case, the recall would be 0.20.

Reference Panel Sample Details

Group Number of Samples Precision Recall
Europe
1. German 93.0 0.69 0.72
2. Dutch 57.0 0.88 0.74
3. French (North) 38.0 0.86 0.76
4. French (South) 52.0 0.85 0.92
5. French 61.0 0.88 0.91
6. Swiss 43.0 0.76 0.71
7. Breton 29.0 0.65 0.64
8. Frisian 47.0 0.68 0.93
9. Cypriot 30.0 0.63 0.88
10. Albanian 19.0 0.61 0.62
11. Sicilian 28.0 0.73 0.97
12. Greek 52.0 0.91 0.75
13. Serbian 24.0 0.72 0.93
14. Slovenian 22.0 0.56 0.9
15. Italian (North) 109.0 0.62 0.65
16. Italian (South) 103.0 0.9 0.77
17. Croatian 42.0 0.65 0.86
18. Maltese 37.0 0.78 0.79
19. Sardinian 51.0 0.88 0.93
20. Bosniak 64.0 0.81 0.61
21. Corsican 21.0 0.52 0.83
22. Irish 29.0 0.61 0.94
23. Welsh 135.0 0.93 0.67
24. English 62.0 0.7 0.91
25. Scottish 148.0 0.84 0.94
26. Swedish 121.0 0.82 0.81
27. Finnish 105.0 0.96 0.79
28. Danish 94.0 0.73 0.7
29. Norwegian 81.0 0.81 0.66
30. Saami 107.0 0.89 0.83
31. Latvian 10.0 0.71 0.69
32. Lithuanian 87.0 0.65 0.61
33. Estonian 55.0 0.85 0.77
34. Hungarian 38.0 0.75 0.83
35. Ashkenazi Jewish 118.0 0.77 0.86
36. Slovak 34.0 0.89 0.78
37. Czech 32.0 0.52 0.94
38. Austrian 75.0 0.6 0.83
39. Portuguese 52.0 0.57 0.65
40. Spanish 105.0 0.64 0.95
41. Basque 92.0 0.84 0.77
42. Belarusian 54.0 0.89 0.94
43. Romanian 45.0 0.91 0.96
44. Bulgarian 58.0 0.96 0.94
45. Ukrainian 81.0 0.68 0.72
46. Russian 104.0 0.86 0.61
47. Polish 114.0 0.77 0.87
48. Eastern European Tatar 12.0 0.63 0.92
49. Greek Mainlander 56.0 0.65 0.8
50. Greek Islander 59.0 0.61 0.86
51. Macaronesia 35.0 0.54 0.73
Caucasus
1. West Caucasus 51.0 0.87 0.82
2. Armenian 75.0 0.71 0.96
3. Azeri 46.0 0.86 0.94
4. North Caucasus (Ossetian, Adygei, Balkar, Kabardin) 37.0 0.62 0.65
5. Northeast Caucasus (Lezgin, Tabassaran, Chechen) 33.0 0.85 0.74
West Africa
1. Senegal (Wolof) 47.0 0.8 0.85
2. Fulani (Guinea) 24.0 0.91 0.68
3. Krou 40.0 0.8 0.91
4. Sierra Leone 53.0 0.94 0.75
5. Kwa 61.0 0.83 0.72
6. Nigeria West 106.0 0.87 0.94
7. Nigeria East 113.0 0.95 0.83
8. Nigeria North 36.0 0.54 0.74
9. Gabon and Cameroon 28.0 0.97 0.68
10. Western Congo 52.0 0.65 0.54
11. South Angola 6.0 0.67 0.73
12. Malinke 38.0 0.6 0.64
13. Burkina Faso 4.0 0.58 0.62
14. Sahelian West 15.0 0.65 0.7
Southern Africa:
1. Kalahari Forager 42.0 0.85 0.87
2. Tswana 25.0 0.82 0.79
3. South African Bantu (Northeast, Southeast) 94.0 0.75 0.91
4. Shona 29.0 0.68 0.83
5. Bemba 3.0 0.52 0.75
East Africa:
1. Kenya West (Kalenjin, Luo) 47.0 0.66 0.79
2. Kenya Central (Kikuyu) 16.0 0.96 0.89
3. Somali (North, South) 92.0 0.69 0.9
4. Sudan (North, Central, South) 82.0 0.61 0.94
5. South Sudan (Dinka, Nuer) 31.0 0.79 0.62
6. Maasai 22.0 0.67 0.85
7. Malagasy Highlander 29.0 0.69 0.74
8. Malagasy Coast 24.0 0.72 0.61
8. Mozambique (Makua) 17.0 0.78 0.67
9. Ethiopia North (Tigray, Amhara, includes Eritrean) 48.0 0.88 0.71
10. Ethiopia South (Oromo, Wolayta) 11.0 0.55 0.58
11. Rwanda (Hutu, Tutsi) 14.0 0.63 0.54
12. Uganda (Baganda) 10.0
Central Africa:
1. Central African Forager (Mbuti, Biaka) 46.0 0.94 0.83
2. Congolese East (Baluba) 29.0 0.69 0.95
3. Central African Republic 8.0 0.43 0.65
Southeast Asia:
1. Filipino (North, South) 103.0 0.87 0.64
2. Indonesian (East, West) 115.0 0.75 0.96
3. Eastern SEA (Vietnamese Kinh, Lao) 72.0 0.62 0.97
4. Yunnan Hills (Lahu) 58.0 0.77 0.73
5. Central SEA (Thai, Mon, Cambodian, Peninsular Malaysian) 32.0 0.63 0.7
6. Western SEA (Burmese – Bamar) 41.0 0.63 0.64
7. Dai (Yunnan) 24.0 0.58 0.88
8. Indigenous Borneo 16.0 0.64 0.92
9. Indigenous Sumatra (Batak) 10.0 0.63 0.7
10. Nyishi (Arunachal Pradesh) 62.0 0.72 0.79
11. Tangsa (Arunachal Pradesh) 64.0 0.83 0.61
12. Assamese (Bodo Kachari, Rajbongshi) 11.0 0.73 0.72
13. Bodo 14.0 0.64 0.62
14. Rajbanshi 9.0 0.89 0.74
South Asia:
1. Koli 10.0 0.67 0.8
2. Bengali 67.0 0.87 0.92
3. Marathi 114.0 0.83 0.75
4. Baloch 46.0 0.68 0.72
5. Uttar Pradesh 26.0 0.9 0.62
6. Odisha 74.0 0.92 0.91
7. Karnataka 63.0 0.79 0.8
8. Pathan 46.0 0.9 0.78
9. Sindhi 85.0 0.74 0.7
10. Gujarati 92.0 0.83 0.68
11. Rajasthani 78.0 0.85 0.77
12. Malayali 20.0 0.67 0.82
13. Telugu 74.0 0.69 0.77
14. Sinhalese 42.0 0.72 0.6
15. Bhojpuri 19.0 0.87 0.69
16. Nepalese 106.0 0.89 0.83
17. Punjabi 25.0 0.69 0.9
18. Makrani 13.0 0.47 0.65
19. Kho 26.0 0.49 0.59
20. Bhil 60.0 0.75 0.84
21. Tamil 71.0 0.85 0.91
22. Pakistani GI (Kalash) 20.0 0.66 0.9
The Americas:
1. Inuit 61.0 0.77 0.72
2. Indigenous North 38.0 0.91 0.58
3. Indigenous Central Plains 53.0 0.84 0.66
4. Indigenous Southwest US 61.0 0.81 0.65
5. Mexican Indigenous (North, South) 107.0 0.92 0.87
6. Indigenous Central America 32.0 0.66 0.82
7. Indigenous Caribbean (Taino) 23.0 0.73 0.65
8. Indigenous South America (Northwest, Andes, Southern Cone, Amazonian) 104.0 0.75 0.68
Oceania:
1. Polynesian 55.0 0.9 0.94
2. Maori 50.0 0.75 0.84
3. Melanesian 47.0 0.64 0.95
4. Aboriginal Australian 26.0 0.86 0.96
5. Hawaiian 29.0 0.85 0.92
6. Moluccan 26.0 0.72 0.64
7. Tahitian 5.0 0.78 0.78
8. Tonga and Samoa 47.0 0.77 0.66
East Asia and Siberia:
1. Western Siberian (Chukchi) 15.0 0.53 0.77
2. Central Siberian GI (Nganasan) 8.0 0.48 0.79
3. Chinese North (Han) 75.0 0.89 0.9
4. Chinese Central (Han) 45.0 0.83 0.88
5. Chinese South (Han) 72.0 0.83 0.67
6. Japanese 20.0 0.79 0.66
7. Korean (South) 117.0 0.85 0.73
8. Manchu (Northeast China) 43.0 0.72 0.72
9. Zhuang (South China) 5.0 0.85 0.81
10. Ryukyuan 101.0 0.78 0.97
11. Miao (South China) 48.0 0.69 0.86
12. Wuling Mountains (Central China South) (She, Miao, Tujia) 39.0 0.65 0.67
13. Hengduan Mountains (Yi, Naxi) 7.0 0.61 0.6
14. Tungusic Manchurian (Xibo, Hezhen) 32.0 0.52 0.43
15. Mongolian 94.0 0.76 0.94
Mideast:
1. Arabian Peninsula (Eastern) 49.0 0.8 0.64
2. Arabian Peninsula (Western) 34.0 0.84 0.83
3. Turkish (West, East, Central, Southeast, Southwest, Northwest) 117.0 0.81 0.67
4. Druze 41.0 0.79 0.66
5. Lebanese 38.0 0.62 0.77
6. Egyptian (North, South) 106.0 0.95 0.66
7. Jordanian 64.0 0.65 0.76
8. Yemeni (Western, Eastern) 57.0 0.94 0.93
9. Syrian (West) 58.0 0.81 0.74
10. Assyrian 47.0 0.8 0.63
11. Palestinian 35.0 0.86 0.61
12. Bedouin (Sinai) 12.0 0.7 0.92
13. Iranian (West, Central, East) 107.0 0.78 0.71
14. Kurdish (West, East) 75.0 0.77 0.82
15. Iraqi (Central, South) 41.0 0.8 0.73
16. Sephardic Jewish 72.0 0.63 0.81
17. Palestinian GI (Palestinian Christians, Palestinian Samaritans, Palestinian Muslims (Nablus)) 68.0 0.66 0.85
18. Lebanese GI (Lebanese Christians, rural Lebanese Shia) 66.0 0.62 0.89
19. Egyptian GI (Coptic Christian) 70.0 0.89 0.87
20. Iranian GI (Zoroastrian) 15.0 0.63 0.8
North Africa:
1. Algerian 22.0 0.78 0.87
2. Tunisian 50.0 0.63 0.72
3. Moroccan (North, South) 75.0 0.62 0.81
4. Libyan (East, West) 44.0 0.75 0.74
5. Berber (Algeria) 36.0 0.66 0.79
Jewish Diaspora Genetic Test:
1. Persian Jewish 102.0 0.74 0.71
2. Ashkenazi 118.0 0.89 0.65
3. Caucasus Jewish 64.0 0.91 0.62
4. Northern-Central Mesopotamia Jewish 24.0 0.84 0.74
5. Eastern Maghrebi Jewish (Moroccan, Algerian) 50.0 0.66 0.76
6. Western Maghrebi Jewish (Tunisian, Libyan) 87.0 0.93 0.88
7. Sephardic Jewish (Turkey) 61.0 0.78 0.68
8. Northern Levantine Jewish 92.0 0.69 0.89
9. Ethiopian Jewish 37.0 0.87 0.66
10. Yemeni Jewish 34.0 0.86 0.81
11. Indian Jewish 15.0 0.6 0.77
Central Asian Genetic Test:
1. Hazara 36.0 0.62 0.68
2. Kyrgyz 28.0 0.69 0.95
3. Kazakh 85.0 0.78 0.94
4. Uzbek (East, West) 65.0 0.62 0.72
5. Uyghur (West, East, Southwest) 58.0 0.58 0.7
6. Pashtun (Afghanistan, Pakistan) 82.0 0.81 0.9
7. Turkmen (Southwest, West, Southeast) 81.0 0.74 0.72
8. Iranian (Northeast, East, Southeast, Central) 104.0 0.89 0.73
9. Mongolian 45.0 0.68 0.71

Where the samples originate

Sample Sources

The following is a list of the samples within the reference panel, with a description of the ethno-geographic sources for a majority of the known samples within each sample set. The samples come from both public data sets and our outreach program. Because of this, the samples fall into two categories: ones where we could verify the ancestral regions of origin, and ones where we could not verify the precise ancestral regions of origin. Listed are the regions of origin for samples which could be verified. Participants were screened based on history of ancestry in a particular region, based on their parents or grandparents being from the region. For some of the samples which we were not able to verify the regions of origin, we compared these samples to known samples per country and listed the ones that clearly clustered with these known samples within each region specific category. This process is meant to generate approximations as to the ancestral locations of origin.

Reference Panel Sample Details

Reference Panel Sample Details

Group Source of A Plurality of Samples
Europe
1. German North Rhine Westphalia, Hesse, Rhineland Palatinate, Baden Wurttemberg
2. Dutch South Holland, North Brabant, Utrecht, North Holland
3. French (North) Hauts de France, Normandie, Grand Est, Centre Val de Loire
4. French (South) Provence Alpes- Côte d’Azur, Auvergne Rhone Alpes, Occitane
5. French France: unspecified
6. Swiss Switzerland: unspecified
7. Breton Bretagne
8. Frisian Friesland, Nordfriesland
9. Cypriot Limassol, Nicosia
10. Albanian Tirana, Fier, Durres, Lezhe, Shkoder
11. Sicilian Palermo, Catania
12. Greek Kendriki Makedonia , Attiki
13. Serbian Sumadija, Kolubara
14. Slovenian Savinga, Drava
15. Italian (North) Lombardy, Emilia Romagna
16. Italian (South) Campania, Apulia, Calabria
17. Croatian Split Dalmatia, Primorje Gorski Kotar
18. Maltese Valletta, Birkirkara
19. Sardinian Cagliari, Sassari, Nuoro, Oristano
20. Bosniak Sarajevo, Tulza, Zenica-Doboj
21. Corsican Upper Corsica, Southern Corsica
22. Irish Cork, Kildare, Meath, Antrim, Down, Londonderry, Wicklow, Louth, Wexford, Armagh, Tyrone
23. Welsh Cardiff, Swansea, Rhondda Cynon Taf
24. English Greater Manchester, West Midlands, West Yorkshire, Merseyside, South Yorkshire
25. Scottish Fife, North Lanarkshire, South Lanarkshire, Highland, West Lothian
26. Swedish Vastra Gotalands lan, Skane lan, Ostergorlands lan, Uppsala lan, Sodermanlands lan, Jonkopings lan
27. Finnish Uusimaa, Pirkanmaa, Varsinais-Suomi, Pohjois-Pohjanmaa, Satakunta
28. Danish Syddanmark, Midtjylland, Zealand, Nordjylland
29. Norwegian Viken, Vestland, Rogaland, Trondelag, Innlandet
30. Saami Finnmark (Norway)
31. Latvian Pierigas, Zemgales, Kursemes, Vidzemes
32. Lithuanian Vilnius, Kaunas, Klaipeda, Siauliai
33. Estonian Harju, Ida-Viru, Tartu, Parnu, Laane-Viru
34. Hungarian Pest, Gyor-Moson-Sopron, Hajdu-Bihar
35. Ashkenazi Jewish Warsaw, Budapest, Lodz, Lviv
36. Slovak Bratislava, Kosice, Presov, Zilina
37. Czech Central Bohemian Region, Praha, South Moravian Region, Moravian-Silesian Region
38. Austrian Lower Austria, Upper Austria, Styria, Tyrol
39. Portuguese Vila Real, Aveiro, Braga, Setubal, Santarem
40. Spanish Andalusia, Catalonia, Valencia, Castilla y Leon, Galicia, Castilla La Mancha
41. Basque Pais Vasco
42. Belarusian Homel, Vitebsk, Brest, Hrodna
43. Romanian Cluj, Timis, Iasi, Constanta, Prahova, Brasov
44. Bulgarian Plovdiv, Varna, Burgas, Stara Zagora, Blagoevgrad
45. Ukrainian Kharkiv, Dnipropetrovsk, Lviv, Odessa
46. Russian Krasnodar Krai, Sverdlovsk Oblast, Rostov Oblast
47. Polish Masovian Voivodeship, Silesian Voivodeship, Lesser Poland Voivodeship, Greater Poland Voivodeship, Lower Silesian Voivodeship
48. Eastern European Tatar Eastern Poland (Lipka Tatars), Constanta (Romanian Tatars)
49. Greek Mainlander Attiki, Kentriki Makedonia, Sterea Ellada, Thessalia, Peloponnisos
50. Greek Islander Kriti, Evia, Rodos
51. Macaronesia Tenerife, Gran Canaria, Lanzarote, Funchal
Caucasus
1. West Caucasus Georgia: Imereti, Shida Kartli, Adjara AR, Abkhazia AR Ethnic Groups: Georgian, Abkhazian.
2. Armenian Armenia: Ararat, Kotayk, Lori
3. Azeri Azerbaijan: Central Aran, Shirvan-Salyan.
4. North Caucasus (Ossetian, Adygei, Balkar, Kabardin) Ethnic Groups: Ossetian, Adygei, Balkar, Kabardin
5. Northeast Caucasus (Lezgin, Tabassaran, Chechen) Ethnic Groups: Lezgin, Tabassaran, Chechen
West Africa
1. Senegal (Wolof) Senegal: Thies, Diourbel, Fatick, Ziguinchor
2. Fulani (Guinea) Guinea: Kankan, Nzerekore
3. Krou Liberia: Nimba County. Ivory Coast: Montagnes.
4. Sierra Leone Sierra Leone: Kenema, Bo. Ethnic Groups: Temne, Mende.
5. Kwa Southern Ghana: Volta, Ashanti, Central. Eastern Ivory Coast: Lacs, Comoe, Lagunes. Togo: Plateaux
6. Nigeria West Nigeria: Oyo, Ogun, Ondo. Benin: Plateau. Ethnic Groups: Yoruba
7. Nigeria East Nigeria: Cross River, Imo, Benue. Ethnic Groups: Igbo, Ijaw, Ibibio, Ekoi, Tiv, Jukon.
8. Nigeria North Nigeria: Kano, Jigawa. Niger: Tahoua, Maradi. Ethnic Groups: Hausa, Fulani.
9. Gabon and Cameroon Cameroon: Bamileke tribe (Ouest), Pahouin tribe (Sud). Gabon: Pahouin tribe (Woleu-Ntem).
10. Western Congo Democratic Republic of the Congo: EsiKongo Tribe. Angola: Ambundu Tribe
11. South Angola Angola: Ovambo Ethnic Group (Cunene)
12. Malinke Mali: Sikasso, Guinea: Kankan
13. Burkina Faso Burkina Faso: Mossi Tribe (Centre-Sud, Centre-Ouest)
14. Sahelian West Mauritania: Beidane Ethnic Group
Southern Africa:
1. Kalahari Forager Namibia: Otjozondjupa. Ethnic Groups: Khoekhoen, San.
2. Tswana Botswana: Central District, Kweneng District.
3. South African Bantu (Northeast, Southeast) Eastern South Africa: KwaZulu Natal, Mpuma-Langa
4. Shona Zimbabwe: Manicaland Province, Midlands Province.
5. Bemba Zambia: Lusaka Province, Central Province
East Africa:
1. Kenya West (Kalenjin, Luo) Kenya: Western Province, Nyanza Province, Rift Valley Province
2. Kenya Central (Kikuyu) Kenya: Rift Valley Province, Eastern Province
3. Somali (North, South) Somalia North: Somaliland, Puntland. Somalia Central: Galmudug, Hirshabelle. Somalia South: South West Region, Jubaland.
4. Sudan (North, Central, South) North: River Nile State, Central: El Gazira, North Kordofan, South: Blue Nile, South Kordofan
5. South Sudan (Dinka, Nuer) South Sudan: Central Equatoria, Eastern Equatoria
6. Maasai Kenya: Rift Valley Province
7. Malagasy Highlander Madagascar: Antananarivo Province
8. Malagasy Coast Madagascar: Atsinanana. Ethnic Group: Betsimisaraka People
8. Mozambique (Makua) Mozambique: Zambezia, Nampula
9. Ethiopia North (Tigray, Amhara, includes Eritrean) Ethiopia: Amhara and Tigray Regions, Eritrea.
10. Ethiopia South (Oromo, Wolayta) Ethiopia: Oromia and Wolaita Regions
11. Rwanda (Hutu, Tutsi) Rwanda: Eastern Province
12. Uganda (Baganda) Central Uganda
Central Africa:
1. Central African Forager (Mbuti, Biaka) Democratic Republic of the Congo: Mbenga and Mbuti ethnic groups.
2. Congolese East (Baluba) Democratic Republic of the Congo: Kasai Province
3. Central African Republic Central African Republic: Sango ethnic group.
Southeast Asia:
1. Filipino (North, South) The Philippines: Luzon (North), Mindanao (South).
2. Indonesian (East, West) Indonesia: Java, Borneo, Sumatra, Sulawesi.
3. Eastern SEA (Vietnamese Kinh, Lao) Vietnam: Northwest Region, Northeast Region, Central Highlands Region. Laos: Salavan, Savannakhet.
4. Yunnan Hills (Lahu) China: Yunnan Province. Vietnam: Lai Chau Province
5. Central SEA (Thai, Mon, Cambodian, Peninsular Malaysian) Peninsular Malaysia: Eastern Region, Southern Region. Cambodia: Mekong Lowlands, Eastern Region. Thailand: Northeast Region, Central Region. Myanmar: Mon State. Thailand: Pathum Thani Province.
6. Western SEA (Burmese – Bamar) Myanmar: Magwe, Sagaing
7. Dai (Yunnan) China: Yunnan Province
8. Indigenous Borneo Indonesia: Borneo
9. Indigenous Sumatra (Batak) Indonesia: Sumatra
10. Nyishi (Arunachal Pradesh) India: Arunachal Pradesh
11. Tangsa (Arunachal Pradesh) India: Arunachal Pradesh
12. Assamese (Bodo Kachari, Rajbongshi) India: Assam State.
13. Bodo India: Assam State (Bodoland Region)
14. Rajbanshi India: Assam State
South Asia:
1. Koli India: Gujarat
2. Bengali Bangladesh: Rajshahi, Sylhet
3. Marathi India: Maharashtra (Aurangabad Region)
4. Baloch Pakistan: Balochistan (Quetta, Sibi)
5. Uttar Pradesh India: Uttar Pradesh (Allahabad, Lucknow, Bareilly)
6. Odisha India: Odisha (Northern District, Central District) Primary group: Odia speakers
7. Karnataka India: Karnataka (Belgavi, Mysuru)
8. Pathan Afghanistan: Zabol, Kandahar, Paktika
9. Sindhi Pakistan: Sindh (Jamshoro, Sanghar)
10. Gujarati India: Gujarat (Vadodara, Navsari, Anand)
11. Rajasthani India: Rajasthan (Bhilwara, Pali, Ajmer)
12. Malayali India: Kerala (Kottayam, Malappuram)
13. Telugu India: Telangana (Nalgonda, Khammam)
14. Sinhalese Sri Lanka: Uva Province, Central Province
15. Bhojpuri India: Uttar Pradesh (Azamgarh, Varanasi, Mirzapur)
16. Nepalese Nepal: Koshi Pradhesh, Madhesh Pradesh
17. Punjabi Pakistan: Punjab (Chiniot, Sargodha, Okara). India: Punjab (Jalandhar, Patiala)
18. Makrani Pakistan: Balochistan (Makran)
19. Kho Pakistan: Chitral
20. Bhil India: Madhya Pradesh
21. Tamil India: Tamil Nadu (Chola Naadu, Kongu Naadu)
22. Pakistani GI (Kalash) Pakistan: Chitral
The Americas:
1. Inuit Canada: Quebec (Nunavik). United States: Alaska (Northwest Arctic Borough)
2. Indigenous North Canada: Cree tribe (Manitoba)
3. Indigenous Central Plains United States: South Dakota (Sioux)
4. Indigenous Southwest US United States: Pima and Navajo ethnic groups.
5. Mexican Indigenous (North, South) Mexico: Otomi, Tarahumara, Mixtec, Seri, Huichol
6. Indigenous Central America Guatemala: Maya. El Salvador: Lenca, Pipil
7. Indigenous Caribbean (Taino) Puerto Rico, Dominican Republic, Cuba
8. Indigenous South America (Northwest, Andes, Southern Cone, Amazonian) Brazil: Guarani. Peru: Quechua. Argentina: Toba. Colombia: Piapoco
Oceania:
1. Polynesian Tuvalu, French Polynesia, Cook Islands
2. Maori New Zealand: North Island
3. Melanesian Eastern Papua New Guinea, Fiji, Vanuatu
4. Aboriginal Australian Australia: (Northern Territory)
5. Hawaiian United States: Hawaii
6. Moluccan Indonesia: Maluku Islands (North Maluku)
7. Tahitian French Polynesia: Tahiti
8. Tonga and Samoa Tonga, Samoa
East Asia and Siberia:
1. Western Siberian (Chukchi) Russia: Chukchi Peninsula
2. Central Siberian GI (Nganasan) Russia: Taymyr Peninsula
3. Chinese North (Han) China: Heilongjiang, Liaoning
4. Chinese Central (Han) China: Anhui, Jiangsu, Zhejiang
5. Chinese South (Han) China: Guangdong, Fujian, Guizhou
6. Japanese Japan: Yamagata, Niagara, Gifu
7. Korean (South) South Korea: Chungcheongnam-do, Gangwon-do
8. Manchu (Northeast China) China: Jilin, Inner Mongolia Autonomous Region
9. Zhuang (South China) China: Guangxi Zhuang Autonomous Region
10. Ryukyuan Japan: Ryukyuan Islands
11. Miao (South China) China: Yunnan, Guizhou
12. Wuling Mountains (Central China South) (She, Miao, Tujia) China: Guizhou, Hunan, Jiangxi
13. Hengduan Mountains (Yi, Naxi) China: Hengduan Mountains
14. Tungusic Manchurian (Xibo, Hezhen) China: Manchuria
15. Mongolian Mongolia: Tov, Selenge.
Mideast:
1. Arabian Peninsula (Eastern) Oman: Dschanub al-Batina, Maskat. UAE: Bani Yas Tribe. Qatar: Qatari Bedouin.
2. Arabian Peninsula (Western) Saudi Arabia: Hejaz Region
3. Turkish (West, East, Central, Southeast, Southwest, Northwest) Turkey: Eastern Anatolia Region, Black Sea Region, Southeastern Anatolia Region, Central Anatolia Region, Mediterranean Region, Aegean Region, Marmara Region.
4. Druze Lebanon: Mount Lebanon Governorate, Chouf district.
5. Lebanese Lebanon: North Lebanon Region, Mount Lebanon Region, South Lebanon Region
6. Egyptian (North, South) Egypt: Faiyum, Sharqia, Qena.
7. Jordanian Jordan: Ajlun, Al Balqa
8. Yemeni (Western, Eastern) Yemen: East (Aden, Janad, Azal). West (Hadhramaut- Mukalla).
9. Syrian (West) Syria: Homs, Hama, Rif Damashq
10. Assyrian Syria: Al Hasakah, Khabur River Valley
11. Palestinian Palestine: Acre, Haifa, Ramallah, Hebron
12. Bedouin (Sinai) Sinai: Jabaliya Tribe
13. Iranian (West, Central, East) Iran: Mazandaran, Qom, Semnan, Qazvin, Markazi, Gilan
14. Kurdish (West, East) Turkey: Eastern Anatolia Region. Iraq: Dohuk, Sulaymaniyah.
15. Iraqi (Central, South) Iraq: Babil, Dhi Qar, Wasit
16. Sephardic Jewish Turkey: Istanbul, Izmir
17. Palestinian GI (Palestinian Christians, Palestinian Samaritans, Palestinian Muslims (Nablus)) Palestine: Nablus, Nazareth, Zababdeh
18. Lebanese GI (Lebanese Christians, rural Lebanese Shia) Lebanon: Keserwan-Jbeil Governorate, Mount Lebanon Governorate, Baalbek, Hermel.
19. Egyptian GI (Coptic Christian) Egypt: Alexandria
20. Iranian GI (Zoroastrian) Iran: Tehran
North Africa:
1. Algerian Algeria: Saida, Mila, Bouira
2. Tunisian Tunisia: Siliana, Monastir, Zaghouan
3. Moroccan (North, South) Morocco: Taza, Fez, Khenifra, Azilal, El Kelaa
4. Libyan (East, West) Libya: Cyrenaica, Tripolitania
5. Berber (Algeria) Algeria: Chaoui Ethnic Group
Jewish Diaspora Genetic Test:
1. Persian Jewish Iran: Shiraz, Tehran
2. Ashkenazi Eastern Europe: Warsaw, Budapest, Lodz, Lviv
3. Caucasus Jewish Caucasus: Chechnya, Dagestan, Ingushetia, Azerbaijan
4. Northern-Central Mesopotamia Jewish Iraq: Kurdistan, Baghdad
5. Eastern Maghrebi Jewish (Moroccan, Algerian) Eastern Maghreb: Morocco, Algeria
6. Western Maghrebi Jewish (Tunisian, Libyan) Western Maghreb: Tunisia, Libya
7. Sephardic Jewish (Turkey) Turkey: Istanbul, Izmir
8. Northern Levantine Jewish Syria: Damascus. Lebanon: Beirut.
9. Ethiopian Jewish Ethiopia: Amhara Region, Tigray Region.
10. Yemeni Jewish Yemen: Hadhramaut, Aden, Habban
11. Indian Jewish India: Kerala, Mumbai
Central Asian Genetic Test:
1. Hazara Afghanistan: Hazarajat
2. Kyrgyz Kyrgyzstan: Osh, Choy
3. Kazakh Kazakhstan: Almati, Jambil, Jetisu
4. Uzbek (East, West) Uzbekistan: Syrdarya, Samarkhand, Kashkadarva
5. Uyghur (West, East, Southwest) China: Hotan, Aksu
6. Pashtun (Afghanistan, Pakistan) Afghanistan: Ghazni, Partika, Zabol, Nangarhar
7. Turkmen (Southwest, West, Southeast) Turkmenistan: Bagtyyarlyk Etraby, Buzmeyin Etraby, Kopetdag Etraby
8. Iranian (Northeast, East, Southeast, Central) Iran: Mazandaran, Qom, Semnan, Qazvin, Markazi, Gilan
9. Mongolian Mongolia: Tov, Selenge.
Reference Panel Sample Details

Reference Panel Sample Details

Population Sample ID Country
Amur River Hunter Gatherers I1190, I1193, I1194, I1196, I1197, I1206, I3355, I3356, I14819 China
Amur River Hunter Gatherers WQM4, ZLNR-2 China
Anatolia Neolithic Farmers I1100, I1102, I1099, I1103, I1101, I1097, I0744, I1096, I1098, I0708, I0745, I0746, I0707, I0709, I0725, I0736, I0726, I0723, I0724, I0727, I1580, I1581, I1583 Turkey
Anatolia Neolithic Farmers Bon001, Bon002, Bon004, Bon005 Turkey
Anatolia Neolithic Farmers Bar8 Turkey
Anatolia Neolithic Farmers Bar31 Turkey
Ancient Australian KP1, KP2 Australia
Ancient Australian WLH4 Australia
ANE AfontovaGora2.SG Russia
ANE MA1.SG Russia
ANE AfontovaGora3_d Russia
ANEA NE20-AR China
ANEA Yumin China
ANEA Bianbian China
ANEA Xiaogao China
ANEA Xiaojingshan China
ANEA Boshan China
ANEA DevilsGate2.SG, DevilsGate1.SG, NEO235, NEO236, NEO237, NEO238, NEO239, NEO240 Russia
ASEA MLDG-1704 China
ASEA Longlin_1 China
ASEA Dushan4_1 China
ASEA Baojianshan5_M2 China
ASEA Qihe3 China
ASEA Qihe2 China
ASEA LD1 China
ASEA LD2 China
Baikal HG DA245, DA246, DA247, DA248, DA249, DA250, DA251, DA252, DA253, DA362 Russia
Caucasus Hunter Gatherers SATP.SG Georgia
Caucasus Hunter Gatherers KK1.SG Georgia
Dzudzuana NEO283 Georgia
East African HG / Mota I5950 Ethiopia
East African Pastoral Neolithic I8758 Kenya
East African Pastoral Neolithic I8759 Kenya
East African Pastoral Neolithic I8804 Kenya
East African Pastoral Neolithic I8809 Kenya
East African Pastoral Neolithic I8814 Kenya
East African Pastoral Neolithic I8820 Kenya
East African Pastoral Neolithic I8830 Kenya
East African Pastoral Neolithic I8874 Kenya
East African Pastoral Neolithic I8918 Kenya
East African Pastoral Neolithic I8919 Kenya
East African Pastoral Neolithic I8920 Kenya
East African Pastoral Neolithic I12384 Kenya
Eastern European Hunter Gatherers I0211 Russia
Eastern European Hunter Gatherers I0124 Russia
Eastern European Hunter Gatherers I0061 Russia
Hoabinhian La368.SG Laos
Hoabinhian Ma911.SG Malaysia
Iberomaurusian IAM.4 Morocco
Iberomaurusian IAM.5 Morocco
Jomon I13882, I13883, I13884, I13886, IK002, JpFu1, JpKa6904, JpKo13, JpKo2, JpOd181, JpOd274 Japan
Melanesian I4451 Vanuatu
Natufian HG I0861, I1072, I1069, I1685, I1687, I1690 Israel
North America HG CK-13 Canada
North America HG 19651 Canada
North America HG XVII-B-939 Canada
South Africa HG I9028.SG South Africa
South Africa HG I9133.SG South Africa
South Africa HG I9134.SG South Africa
South America HG Anzick.SG United States
South America HG CUN008 Peru
South America HG CP8 Peru
South America HG CP29 Peru
South America HG Sumidouro5 Brazil
South America HG CP19, CP23, CP26, CP25, CP22, CP18, CP21 Brazil
South America HG I11974 Chile
Southeast Asian Neolithic Farmer I0627 Vietnam
Southeast Asian Neolithic Farmer I1137 Vietnam
Western Hunter Gatherers Iboussieres25-1 France
Western Hunter Gatherers Iboussieres31-2 France
Western Hunter Gatherers BerryAuBac France
Western Hunter Gatherers Falkenstein Germany
Western Hunter Gatherers I2158 Italy
Western Hunter Gatherers Rochedane France
Western Hunter Gatherers I1875 Croatia
Western Hunter Gatherers I0585 Spain
Western Hunter Gatherers I1507 Hungary
Western Hunter Gatherers Loschbour_published.DG Luxembourg
Western Hunter Gatherers Bichon.SG Switzerland
Western Hunter Gatherers I9030 Italy
Western Hunter Gatherers Chaudardes1_m France
Yakutia Hunter Gatherers Kamenka-1, Kamenka-3, N4b2, Yak021 Russia
Yellow River Neolithic Farmers WD-WT5M2 China
Yellow River Neolithic Farmers WD-WT1H16 China
Yellow River Neolithic Farmers PLTM313 China
Yellow River Neolithic Farmers PLTM312 China
Yellow River Neolithic Farmers PLTM311 China
Yellow River Neolithic Farmers PLTM310 China
Yellow River Neolithic Farmers HJTM109 China
Yellow River Neolithic Farmers HJTM107 China
Zagros Neolithic Farmers I7527 Iran
Zagros Neolithic Farmers I1290 Iran
Zagros Neolithic Farmers I1944, I1945, I1949, I1951 Iran
Zagros Neolithic Farmers AH1.SG Iran
Zagros Neolithic Farmers AH2.SG Iran
Zagros Neolithic Farmers AH4.SG Iran
Zagros Neolithic Farmers WC1.SG Iran