1.
Byrska-Bishop M, Evani US, Zhao X, et al. High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios. Cell. 2022;185(18):3426-3440.e19. doi:10.1016/j.cell.2022.08.004.
1.
Posth C, Nakatsuka N, Lazaridis I, et al. Reconstructing the Deep Population History of Central and South America. Cell. 2018;175(5):1185-1197.e22. doi:10.1016/j.cell.2018.10.027.
1.
Rivera-Munoz EA, Milko LV, Harrison SM, et al. ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation. Hum Mutat. 2018;39(11):1614-1622. doi:10.1002/humu.23645.
1.
Oza AM, DiStefano MT, Hemphill SE, et al. Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss. Hum Mutat. 2018;39(11):1593-1613. doi:10.1002/humu.23630.
1.
Ghosh R, Harrison SM, Rehm HL, Plon SE, Biesecker LG, ClinGen Sequence Variant Interpretation Working Group. Updated recommendation for the benign stand-alone ACMG/AMP criterion. Hum Mutat. 2018;39(11):1525-1530. doi:10.1002/humu.23642.
1.
Dolman L, Page A, Babb L, et al. ClinGen advancing genomic data-sharing standards as a GA4GH driver project. Hum Mutat. 2018;39(11):1686-1689. doi:10.1002/humu.23625.
1.
Harrison SM, Dolinksy JS, Chen W, et al. Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach. Hum Mutat. 2018;39(11):1641-1649. doi:10.1002/humu.23643.
1.
Savatt JM, Azzariti DR, Faucett A, et al. ClinGen’s GenomeConnect registry enables patient-centered data sharing. Hum Mutat. 2018;39(11):1668-1676. doi:10.1002/humu.23633.
1.
Frankish A, Diekhans M, Ferreira A-M, et al. GENCODE reference annotation for the human and mouse genomes. Nucleic Acids Res. 2019;47(D1):D766-D773. doi:10.1093/nar/gky955.
1.
Mahajan A, Taliun D, Thurner M, et al. Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps. Nat Genet. 2018;50(11):1505-1513. doi:10.1038/s41588-018-0241-6.