Aggarwal S. and Phadke S. R. 2015 Medical genetics and genomic medicine in India: current status and opportunities ahead. Mol. Genet. Genomic Med. 3, 160–171.

Article  PubMed  PubMed Central  Google Scholar 

Amberger J. S., Bocchini C. A., Scott A. F. and Hamosh A. 2019 OMIM.org: leveraging knowledge across phenotype-gene relationships. Nucleic Acids Res. 47, D1038–D1043.

Article  CAS  PubMed  Google Scholar 

Barnett S., Huckvale K., Christensen H., Venkatesh S., Mouzakis K. and Vasa R. 2019 Intelligent sensing to inform and learn (InSTIL): a scalable and governance-aware platform for universal, smartphone-based digital phenotyping for research and clinical applications. J. Med. Internet. Res. 21, e16399.

Article  PubMed  PubMed Central  Google Scholar 

Caron N. R., Chongo M., Hudson M., Arbour L., Wasserman W. W., Robertson S., Correard S. and Wilcox P. 2020 Indigenous Genomic Databases: Pragmatic Considerations and Cultural Contexts. Front. Public Health 8, 111.

Article  PubMed  PubMed Central  Google Scholar 

Caulfield T. and McGuire A. L. 2012 Direct-to-consumer genetic testing: perceptions, problems, and policy responses. Annu. Rev. Med. 63, 23–33.

Article  CAS  PubMed  Google Scholar 

Comfort S., Perera S., Hudson Z., Dorrell D., Meireis S., Nagarajan M., Ramakrishnan C. and Fine J. 2018 Sorting through the safety data haystack: using machine learning to identify individual case safety reports in social-digital media. Drug Saf. 41, 579–590.

Article  PubMed  PubMed Central  Google Scholar 

Consortium G. K 2019 The GenomeAsia 100K Project enables genetic discoveries across Asia. Nature 576, 106–111.

Article  Google Scholar 

Cooper G. M. 2015 Parlez-vous VUS? Genome Res. 25, 1423–1426.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Dissanayake V. H., Scaria V., Samarakoon P. and Patowary A. 2011 The Sri Lankan personal genome project. Sri Lanka J. Bio-Med. Infor. 2, 4–8.

Article  Google Scholar 

Euesden J., Lewis C. M. and O’Reilly P. F. 2015 PRSice: polygenic risk score software. Bioinformatics 31, 1466–1468.

Article  CAS  PubMed  Google Scholar 

Huckvale K., Venkatesh S. and Christensen H. 2019 Toward clinical digital phenotyping: a timely opportunity to consider purpose, quality, and safety. NPJ Digit. Med. 2, 88.

Article  PubMed  PubMed Central  Google Scholar 

Hudson M., Garrison N. A., Sterling R., Caron N. R., Fox K., Yracheta J. et al. 2020 Rights, interests and expectations: Indigenous perspectives on unrestricted access to genomic data. Nat. Rev. Genet. 21, 377–384.

Article  CAS  PubMed  Google Scholar 

Ju D., Hui D., Hammond D. A., Wonkam A. and Tishkoff S. A. 2022 Importance of including non-European populations in large human genetic studies to enhance precision medicine. Annu. Rev. Biomed. Data Sci. 5, 321–339.

Article  PubMed  PubMed Central  Google Scholar 

Krapohl E., Patel H., Newhouse S., Curtis C. J., von Stumm S., Dale P. S. et al. 2018 Multi-polygenic score approach to trait prediction. Mol. Psychiatry 23, 1368–1374.

Article  CAS  PubMed  Google Scholar 

Kumar D. 2022 The emergence of clinical genomics and genomic medicine across India: the role of the UK-India genomic medicine alliance. Genet. Clin. 15, 19–21.

Google Scholar 

Köhler S., Carmody L., Vasilevsky N., Jacobsen J. O. B., Danis D., Gourdine J. P. et al. 2019 Expansion of the human phenotype ontology (HPO) knowledge base and resources. Nucleic Acids Res. 47, D1018–D1027.

Article  PubMed  Google Scholar 

Lynch M. T., Maloney K. A., Pollin T. I., Streeten E. A., Xu H., Shuldiner A. R. et al. 2021 The burden of pathogenic variants in clinically actionable genes in a founder population. Am. J. Med. Genet. A 185, 3476–3484.

Article  CAS  PubMed  Google Scholar 

Musanabaganwa C., Mihigo B., Tumusime R., Uwanyirigira M., da Rocha J., Hayat M. et al. 2020 Building skills and resources for genomics, epigenetics, and bioinformatics research for Africa: report of the joint 11th Conference of the African Society of Human Genetics and 12th H3Africa Consortium, 2018. Am. J. Trop. Med. Hyg. 102, 1417–1424.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Narang A., Roy R. D., Chaurasia A., Mukhopadhyay A., Mukerji M., Dash D. and I. G. V. Consortium 2010 IGVBrowser--a genomic variation resource from diverse Indian populations. Database (Oxford) 2010, baq022.

Ntuk U. E., Gill J. M., Mackay D. F., Sattar N. and Pell J. P. 2014 Ethnic-specific obesity cutoffs for diabetes risk: cross-sectional study of 490,288 UK biobank participants. Diabetes Care 37, 2500–2507.

Article  PubMed  Google Scholar 

Richards S., Aziz N., Bale S., Bick D., Das S., Gastier-Foster J. et al. 2015 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet. Med. 17, 405–424.

Article  PubMed  PubMed Central  Google Scholar 

Sirisena N. D. and Dissanayake V. H. W. 2019 Genetics and genomic medicine in Sri Lanka. Mol. Genet. Genomic Med. 7, e744.

Article  PubMed  PubMed Central  Google Scholar 

Vrijenhoek T., Kraaijeveld K., Elferink M., de Ligt J., Kranendonk E., Santen G. et al. 2015 Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects. Eur. J. Hum. Genet. 23, 1270.

Article  PubMed  PubMed Central  Google Scholar 

Wang T., Antonacci-Fulton L., Howe K., Lawson H. A., Lucas J. K., Phillippy A. M. et al. 2022 The human pangenome project: a global resource to map genomic diversity. Nature 604, 437–446.

Article  CAS  PubMed  PubMed Central  Google Scholar