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Publications

The resources of Genome Database of Latvian population have facilitated the following research:

Year 2020.

García-Calzón, S., Perfilyev, A., Martinell, M., Ustinova, M., Kalamajski, S., Franks, P. W., Bacos, K., Elbere, I., Pihlajamäki, J., Volkov, P., Vaag, A., Groop, L., Maziarz, M., Klovins, J., Ahlqvist, E., & Ling, C. (2020). Epigenetic markers associated with metformin response and intolerance in drug-naïve patients with type 2 diabetes. Science translational medicine, 12(561), eaaz1803. https://doi.org/10.1126/scitranslmed.aaz1803

Elbere I, Silamikelis I, Dindune I.I, Kalnina I, Ustinova M, Zaharenko L, Silamikele L, Rovite V, Gudra D, Konrade I, Sokolovska J, Pirags V, Klovins J. (2020) Baseline gut microbiome composition predicts metformin therapy short-term efficacy in newly diagnosed type 2 diabetes patients. PLoS ONE 15(10): e0241338. https://doi.org/10.1371/journal.pone.0241338

Ustinova, M., Ansone, L., Silamikelis, I., Rovite, V., Elbere, I., Silamikele, L., Kalnina, I., Fridmanis, D., Sokolovska, J., Konrade, I., Pirags, V., & Klovins, J. (2020). Whole-blood transcriptome profiling reveals signatures of metformin and its therapeutic response. PloS one, 15(8), e0237400. https://doi.org/10.1371/journal.pone.0237400

Alm E, Broberg EK, Connor T, Hodcroft EB, Komissarov AB, Maurer-Stroh S, Melidou A, Neher RA, O'Toole Á, Pereyaslov D; WHO European Region sequencing laboratories and GISAID EpiCoV group; WHO European Region sequencing laboratories and GISAID EpiCoV group*. Geographical and temporal distribution of SARS-CoV-2 clades in the WHO European Region, January to June 2020. Euro Surveill. 2020 Aug;25(32):2001410. PMID: 32794443.

Peculis R, Balcere I, Radovica-Spalvina I, Konrade I, Caune O, Megnis K, Rovite V, Stukens J, Nazarovs J, Breiksa A, Kiecis A, Silamikelis I, Pirags V, Klovins J. Case report: recurrent pituitary adenoma has increased load of somatic variants. BMC Endocr Disord. 2020 Jan 29;20(1):17. PMID: 31996211

Peculis R, Mandrika I, Petrovska R, Dortane R, Megnis K, Nazarovs J, Balcere I, Stukens J, Konrade I, Pirags V, Klovins J, Rovite V. Pituispheres Contain Genetic Variants Characteristic to Pituitary Adenoma Tumor Tissue. Front Endocrinol (Lausanne). 2020 May 22;11:313. PMID: 32528411

Eggermann T, Elbracht M, Kurth I, Juul A, Johannsen TH, Netchine I, Mastorakos G, Johannsson G, Musholt TJ, Zenker M, Prawitt D, Pereira AM, Hiort O; European Reference Network on Rare Endocrine Conditions (ENDO-ERN). Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN). Orphanet J Rare Dis. 2020 Jun 8;15(1):144. PMID: 32513286

Vedmedovska N, Bokucava D, Kivite-Urtane A, Rovite V, Zake-Nikitina L, Klovins J, Fodina V, Donders GGG. The Correlation Between Abnormal Uterine Artery Flow in the First Trimester and Genetic Thrombophilic Alteration: A Prospective Case-Controlled Pilot Study. Diagnostics (Basel). 2020 Aug 31;10(9):E654. PMID: 32878173

Sokolovska J, Stefanovics J, Gersone G, Pahirko L, Valeinis J, Kalva-Vaivode S, Rovite V, Blumfelds L, Pirags V, Tretjakovs P. Angiopoietin 2 and Neuropeptide Y are Associated with Diabetic Kidney Disease in Type 1 Diabetes Mellitus. Exp Clin Endocrinol Diabetes. 2020 Jan 20. PMID: 31958847

Zalizko P, Stefanovics J, Sokolovska J, Paramonova N, Klavina E, Erts R, Rovite V, Klovins J, Pukitis A. Thiopurine S-methyltransferase genetic polymorphisms in adult patients with inflammatory bowel diseases in the Latvian population. Therap Adv Gastroenterol. 2020 Jul 14;13:1756284820937426. PMID: 32704308

Kamitaki N, Sekar A, Handsaker RE, de Rivera H, Tooley K, Morris DL, Taylor KE, Whelan CW, Tombleson P, Loohuis LMO, Schizophrenia Working Group of the Psychiatric Genomics Consortium; Boehnke M, Kimberly RP, Kaufman KM, Harley JB, Langefeld CD, Seidman CE, Pato MT, Pato CN, Ophoff RA, Graham RG, Criswell LA, Vyse TJ, McCarroll  Complement genes contribute sex-biased vulnerability in diverse disorders. Nature. 2020 Jun;582(7813):577-581. PMID: 32499649

Mezinska S, Kaleja J, Mileiko I, Santare D, Rovite V, Tzivian L. Public awareness of and attitudes towards research biobanks in Latvia. BMC Med Ethics. 2020 Jul 31;21(1):65. PMID: 32736554

Nagle E., Luksa N., Moisejevs G., Gailite L. Risk factor analysis for gout in the Latvian population. Proceedings of the Latvian Academy of Sceinces. Sect.B. Vol74(2020) No1 (724, pp.7-11).

Year 2019.

Taylor NJ, Mitra N, Qian L, Avril MF, Bishop DT, Paillerets BB, Bruno W, Calista D, Cuellar F, Cust AE, Demenais F, Elder DE, Gerdes AM, Ghiorzo P, Goldstein AM, Grazziotin TC, Gruis NA, Hansson J, Harland M, Hayward NK, Hocevar M, Höiom V, Holland EA, Ingvar C, Landi MT, Landman G, Larre-Borges A, Mann GJ, Nagore E, Olsson H, Palmer JM, Perić B, Pjanova D, Pritchard AL, Puig S, Schmid H, van der Stoep N, Tucker MA, Wadt KAW, Yang XR, Newton-Bishop JA, Kanetsky PA; GenoMEL Study Group. Estimating CDKN2A mutation carrier probability among global familial melanoma cases using GenoMELPREDICT. J Am Acad Dermatol. 2019 Feb 4. pii: S0190-9622(19)30190-2. doi: 10.1016/j.jaad.2019.01.079.

Ozola A, Ruklisa D, Pjanova D. The complementary effect of rs1042522 in TP53 and rs1805007 in MC1R is associated with an elevated risk of cutaneous melanoma in Latvian population. Oncol Lett. 2019 Nov;18(5):5225-5234. doi: 10.3892/ol.2019.10906.

Genome-Wide Association Study of Diabetic Kidney Disease Highlights Biology Involved in Glomerular Basement Membrane Collagen. Salem RM, Todd JN, Sandholm N, Cole JB, Chen WM, Andrews D, Pezzolesi MG, McKeigue PM, Hiraki LT, Qiu C, Nair V, Di Liao C, Cao JJ, Valo E, Onengut-Gumuscu S, Smiles AM, McGurnaghan SJ, Haukka JK, Harjutsalo V, Brennan EP, van Zuydam N, Ahlqvist E, Doyle R, Ahluwalia TS, Lajer M, Hughes MF, Park J, Skupien J, Spiliopoulou A, Liu A, Menon R, Boustany-Kari CM, Kang HM, Nelson RG, Klein R, Klein BE, Lee KE, Gao X, Mauer M, Maestroni S, Caramori ML, de Boer IH, Miller RG, Guo J, Boright AP, Tregouet D, Gyorgy B, Snell-Bergeon JK, Maahs DM, Bull SB, Canty AJ, Palmer CNA, Stechemesser L, Paulweber B, Weitgasser R, Sokolovska J, Rovīte V, Pīrāgs V, Prakapiene E, Radzeviciene L, Verkauskiene R, Panduru NM, Groop LC, McCarthy MI, Gu HF, Möllsten A, Falhammar H, Brismar K, Martin F, Rossing P, Costacou T, Zerbini G, Marre M, Hadjadj S, McKnight AJ, Forsblom C, McKay G, Godson C, Maxwell AP, Kretzler M, Susztak K, Colhoun HM, Krolewski A, Paterson AD, Groop PH, Rich SS, Hirschhorn JN, Florez JC; SUMMIT Consortium, DCCT/EDIC Research Group, GENIE Consortium. J Am Soc Nephrol. 2019 Oct;30(10):2000-2016. doi: 10.1681/ASN.2019030218. Epub 2019 Sep 19.

Zalizko P, Stefanovics J, Sokolovska J, Paramonova N, Klavina E, Erts R, Rovite V, Klovins J, Pukitis A, Thiopurine S-methyltransferase genetic polymorphisms in adult patients with inflammatory bowel diseases in the Latvian population. Therapeutic Advances in Gastroenterology. (submitted for publication).

Stavusis J, Lace B, Schäfer J, Geist J, Inashkina I, Kidere D, Pajusalu S, Wright NT, Saak A, Weinhold M, Haubenberger D, Jackson S, Kontrogianni-Konstantopoulos A, Bönnemann CG. Novel mutations in MYBPC1 are associated with myogenic tremor and mild myopathy. (2019) Ann Neurol. 86 (1), pp. 129-142. PMID: 31025394.

Ustinova M, Silamikelis I, Kalnina I, Ansone L, Rovite V, Elbere I, Radovica-Spalvina I, Fridmanis D, Aladyeva J, Konrade I, Pirags V, Klovins J. Metformin strongly affects transcriptome of peripheral blood cells in healthy individuals. PLoS One. 2019 Nov 8;14(11):e0224835. doi: 10.1371/journal.pone.0224835. PMID: 31703101; PMCID: PMC6839856.

Megnis K, Peculis R, Rovite V, Laksa P, Niedra H, Balcere I, Caune O, Breiksa A, Nazarovs J, Stukens J, Konrade I, Pirags V, Klovins J. Evaluation of the Possibility to Detect Circulating Tumor DNA From Pituitary Adenoma. Front Endocrinol (Lausanne). 2019 Sep 18;10:615. doi: 10.3389/fendo.2019.00615. PMID: 31620080; PMCID: PMC6759656.

Hess JL, Tylee DS, Mattheisen M; Schizophrenia Working Group of the Psychiatric Genomics Consortium; Lundbeck Foundation Initiative for Integrative Psychiatric Research (iPSYCH), Børglum AD, Als TD, Grove J, Werge T, Mortensen PB, Mors O, Nordentoft M, Hougaard DM, Byberg-Grauholm J, Bækvad-Hansen M, Greenwood TA, Tsuang MT, Curtis D, Steinberg S, Sigurdsson E, Stefánsson H, Stefánsson K, Edenberg HJ, Holmans P, Faraone SV, Glatt SJ.. A polygenic resilience score moderates the genetic risk for schizophrenia. Mol Psychiatry (2019) doi:10.1038/s41380-019-0463-8.

Huckins LM, Dobbyn A, Ruderfer DM, Hoffman G, Wang W, Pardiñas AF, Rajagopal VM, Als TD, T Nguyen H, Girdhar K, Boocock J, Roussos P, Fromer M, Kramer R, Domenici E, Gamazon ER, Purcell S; CommonMind Consortium; Schizophrenia Working Group of the Psychiatric Genomics Consortium; iPSYCH-GEMS Schizophrenia Working Group, Demontis D, Børglum AD, Walters JTR, O'Donovan MC, Sullivan P, Owen MJ, Devlin B, Sieberts SK, Cox NJ, Im HK, Sklar P, Stahl EA. Gene expression imputation across multiple brain regions provides insights into schizophrenia risk. Nat Genet 51, 659–674 (2019) doi:10.1038/s41588-019-0364-4.

Harold D, Connolly S, Riley BP, Kendler KS, McCarthy SE, McCombie WR, Richards A, Owen MJ, O'Donovan MC, Walters J; Wellcome Trust Case Control Consortium 2; Schizophrenia Working Group of the Psychiatric Genomics Consortium, Donohoe G, Gill M, Corvin A, Morris DW. Population-based identity-by-descent mapping combined with exome sequencing to detect rare risk variants for schizophrenia. Am J Med Genet B Neuropsychiatr Genet. 2019 Apr;180(3):223-231. doi: 10.1002/ajmg.b.32716. Epub 2019 Feb 23. PMID: 30801977.

Year 2018.

Ozola A., Ruklisa D., Pjanova D. Association of the 16q24.3 region gene variants rs1805007 and rs4785763 with heightened risk of melanoma in Latvian population. Meta Gene (2018) 18:87-92.

Grasmane A., Rots D., Vitina Z, Magomedova V, Gailite L. The association of FMR1 gene (CGG)n variation with idiopathic female infertility.Archives of Medical Sciences (accepted 2018).

Gailite, L., Rots, D., Pukite, I., Cernevska, G., Kreile, M. Case report: multiple UGT1A1 gene variants in a patient with Crigler-Najjar syndrome. BMC Pediatrics, Volume 18, Issue 1, 3 October 2018, 317. doi: 10.1186/s12887-018-1285-6.

Moisejevs G., Gailite L., Isajevs S., Nikitina Zake L., Kempa I., Janciauskis D., Kikuste I., Sivins A., Ancans G., Leja M. Lack of association between rs2067474 in the histamine receptor H2 gene and gastric cancer in Latvian population. Latvian Science Proceedings (accepted 2018).

Elbere I, Silamikelis I, Ustinova M, Kalnina I, Zaharenko L, Peculis R, Konrade I, Ciuculete DM, Zhukovsky C, Gudra D, Radovica-Spalvina I, Fridmanis D, Pirags V, Schiöth HB, Klovins J 2018. Significantly altered peripheral blood cell DNA methylation profile as a result of immediate effect of metformin use in healthy individuals. Clinical Epigenetics DOI: 10.1186/s13148-018-0593-xiT scalled.

Ustinova M, Silamikelis I, Elbere I, Kalnina I, Ansone L, Rovite V, Radovica-Spalvina I, Fridmanis D, Aladyeva J, Konrade I, Pirags V, Klovins J. Metformin Strongly Affects Transcriptome of Peripheral Blood Cells in Healthy Individuals” (Submitted to Scientific Reports)

Elbere I, Kalnina I, Silamikelis I, Konrade I, Zaharenko L, Sekace K, Radovica-Spalvina I, Fridmanis D, Gudra D, Pirags V, Klovins J. (2018) Association of metformin administration with gut microbiome dysbiosis in healthy volunteers. PLoS ONE 13(9): e0204317.

Tambets K, Yunusbayev B, Hudjashov G, Ilumäe AM, Rootsi S, Honkola T, Vesakoski O, Atkinson Q, Skoglund P, Kushniarevich A, Litvinov S, Reidla M, Metspalu E, Saag L, Rantanen T, Karmin M, Parik J, Zhadanov SI, Gubina M, Damba LD, Bermisheva M, Reisberg T, Dibirova K, Evseeva I, Nelis M, Klovins J, Metspalu A, Esko T, Balanovsky O, Balanovska E, Khusnutdinova EK, Osipova LP, Voevoda M, Villems R, Kivisild T, Metspalu M. Genes reveal traces of common recent demographic history for most of the Uralic-speaking populations. Genome Biol. 2018 Sep 21;19(1):139.

Ni G, Gratten J, Wray NR, Lee SH; Schizophrenia Working Group of the Psychiatric Genomics Consortium. Age at first birth in women is genetically associated with increased risk of schizophrenia. Sci Rep. 2018 Jul 5;8(1):10168.

Brainstorm Consortium; Analysis of shared heritability in common disorders of the brain. Science. 2018 Jun 22;360(6395).

Bipolar Disorder and Schizophrenia Working Group of the Psychiatric Genomics Consortium. Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes. Cell. 2018 Jun 14;173(7):1705-1715.

Ni G, Moser G; Schizophrenia Working Group of the Psychiatric Genomics Consortium, Wray NR, Lee SH. Estimation of Genetic Correlation via Linkage Disequilibrium Score Regression and Genomic Restricted Maximum Likelihood. Am J Hum Genet. 2018 Jun 7;102(6):1185-1194.

Year 2017.

McLaughlin RL, Schijven D, van Rheenen W, van Eijk KR, O'Brien M, Kahn RS, Ophoff RA, Goris A, Bradley DG, Al-Chalabi A, van den Berg LH, Luykx JJ, Hardiman O, Veldink JH; Project MinE GWAS Consortium; Schizophrenia Working Group of the Psychiatric Genomics Consortium. Genetic correlation between amyotrophic lateral sclerosis and schizophrenia. Nat Commun. 2017 Mar 21;8:14774.

Sviklāne L, Olmane E, Dzērve Z, Kupčs K, Pīrāgs V V, Sokolovska J. Fatty liver index and hepatic steatosis index predict non-alcoholic fatty liver disease in type 1 diabetes. J Gastroenterol Hepatol. 2017 May 2.

A New Baltic Population-Specific Human Genetic Marker in the PMCA4 Gene. Stavusis J, Inashkina I, Lace B, Pelnena D, Limborska S, Khrunin A, Kucinskas V, Krumina A, Piekuse L, Zorn B, Fodina V, Punab M, Erenpreiss J. Hum Hered. 2016;82(3-4):140-146. doi: 10.1159/000481434. Epub 2017 Nov 2.

Rovite V, Wolff-Sagi Y, Zaharenko L, Nikitina-Zake L, Grens E, Klovins J. Genome Database of the Latvian Population (LGDB): design, goals, and primary results. Journal of Epidemiology. Accepted August 6th, 2017, in press.

Ilze Elbere, Ineta Kalnina, Ivars Silamikelis, Ilze Konrade, Linda Zaharenko, Ilze Radovica-Spalvina, Davids Fridmanis, Dita Gudra, Valdis Pirags, Janis Klovins. Association of metformin administration with gut microbiome dysbiosis in healthy volunteers. The Journal of Pharmacology and Experimental Therapeutics.

Year 2016.

Dujic, T., Zhou, K., Yee, S.W., van Leeuwen N., de Keyser, C.E., Javorský, M., Goswami, S., Zaharenko. L., Marie, M., Christensen, H., Out, M., Tavendale, R., Kubo, M., Hedderson, M.M., van der Heijden, A.A., Klimčáková, L., Pirags, V., Kooy, A., Brøsen, K., Klovins, J., Semiz, S., Tkáč, I., Stricker, B.H., Palmer, C.N., 't Hart, L.M., Giacomini, K.M., Pearson, E.R. Variants in Pharmacokinetic Transporters and Glycaemic Response to Metformin: A MetGen Meta-Analysis. 2016. Clinical Pharmacology & Therapeutics, Epub ahead of print. PMID: 27859023

Zaharenko, L., Kalnina, I., Geldnere, K., Konrade, I., Grinberga, S., Židzik ,J., Javorský, M., Lejnieks, A., Nikitina-Zake, L., Fridmanis, D., Peculis, R., Radovica-Spalvina, I., Hartmane, D., Pugovics, O., Tkáč, I., Klimčáková, L., Pirags, V., Klovins, J. Single nucleotide polymorphisms in the intergenic region between metformin transporter OCT2 and OCT3 genes are associated with short-term response to metformin monotherapy in type 2 diabetes mellitus patients. 2016. European Journal of Endocrinology, Epub ahead of print. PMID: 27609360

Peculis, R., Balcere, I., Rovite, V., Megnis, K., Valtere, A., Stukens, J., Arnicane, L., Nikitina-Zake, L., Lejnieks, A., Pirags, V., Klovins, J. Polymorphisms in MEN1 and DRD2 genes are associated with the occurrence and characteristics of pituitary adenomas (2016) European Journal of Endocrinology, 175 (2), pp. 145-153. PMID: 27185868

Franke, B., Stein, J.L., Ripke, S., Anttila, V., Hibar, D.P., van Hulzen, K.J., Arias-Vasquez, A., Smoller, J.W., Nichols, T.E., Neale, M.C., McIntosh, A.M., Lee, P., McMahon, F.J., Meyer-Lindenberg, A., Mattheisen, M., Andreassen, O.A., Gruber, O., Sachdev, P.S., Roiz-Santiañez, R., Saykin, A.J., Ehrlich, S., Mather, K.A., Turner, J.A., Schwarz, E., Thalamuthu, A., Yao, Y., Ho, Y.Y., Martin, N.G., Wright, M.J., Schizophrenia Working Group of the Psychiatric Genomics Consortium, Psychosis Endophenotypes International Consortium, Wellcome Trust Case Control Consortium 2, Enigma Consortium, O'Donovan, M.C., Thompson, P.M., Neale, B.M., Medland, S.E., Sullivan, P.F. Genetic influences on schizophrenia and subcortical brain volumes: large-scale proof of concept (2016) Nature Neuroscience, 19(3):420-31. PMID: 26854805

Sekar, A., Bialas, A.R., de Rivera, H., Davis, A., Hammond, T.R., Kamitaki, N., Tooley, K., Presumey, J., Baum, M., Van Doren, V., Genovese, G., Rose, S.A., Handsaker, R.E., Schizophrenia Working Group of the Psychiatric Genomics Consortium, Daly, M.J., Carroll, M.C., Stevens, B., McCarroll, S.A. Schizophrenia risk from complex variation of complement component 4 (2016). Nature, 530(7589):177-83. PMID: 26814963

Bigdeli, T.B., Ripke, S., Bacanu, S.A., Lee, S.H., Wray, N.R., Gejman, P.V., Rietschel, M., Cichon, S., St Clair, D., Corvin, A., Kirov, G., McQuillin, A., Gurling, H., Rujescu, D., Andreassen, O.A., Werge, T., Blackwood, D.H., Pato, C.N., Pato, M.T., Malhotra, A.K., O'Donovan, M.C., Kendler, K.S., Fanous, A.H., Schizophrenia Working Group of the Psychiatric Genomics Consortium. Genome-wide association study reveals greater polygenic loading for schizophrenia in cases with a family history of illness (2016) American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 171B(2):276-89. PMID: 26663532

Hamdi, Y., .... Tihomirova, L., ..... Simard, J. Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3 (2016) Breast Cancer Research and Treatment, pp. 1-18. PMID: 27796716

Lawrenson, K., … Tihimirova, L., ... Price, M. Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus (2016) Nature Communications, 7, art. no. 12675. PMID: 27601076

Hollestelle, A.,…. Tihomirova, L., … Goode, E.L., Breast Cancer Family Register, EMBRACE, GENICA Network, HEBON, SWE-BRCA No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer (2016) Gynecologic Oncology, 141 (2), pp. 386-401. PMID: 25940428

Couch, F.J.,…, Tihomirova, L., …. Antoniou, A.C. Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer (2016) Nature Communications, 7, art. no. 11375. PMID:     27117709

Dunning, A.M.,… Tihomirova, L., … Edwards, S.L. Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170 (2016) Nature Genetics, 48 (4), pp. 374-386. PMID: 26928228

Meeks, H.D., …. Tihomirova, L., … Goldgar, D.E. BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers (2016) Journal of the National Cancer Institute, 108 (2), art. no. Djv315. PMID: 26586665

Inashkina, I., Jankevics, E., Stavusis, J., Vasiljeva, I., Viksne, K., Micule, I., Strautmanis, J., Naudina, M.S., Cimbalistiene, L., Kucinskas, V., Krumina, A., Utkus, A., Burnyte, B., Matuleviciene, A., Lace, B.

Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies (2016) BMC Musculoskeletal Disorders, 17 (1), art. no. 1058. PMID: 27142102

Igumnova, V., Capligina, V., Krams, A., Cirule, A., Elferts, D., Pole, I., Jansone, I., Bandere, D., Ranka, R. Genotype and allele frequencies of isoniazid-metabolizing enzymes NAT2 and GSTM1 in Latvian tuberculosis patients (2016) Journal of Infection and Chemotherapy, 22 (7), pp. 472-477. PMID: 27236516

Publications that have been published before 2016 are gathered and stored in archive of Genome Database of Latvian population.