Emdin CA, Khera AV, Aragam K, et al. DNA Sequence Variation in Encoding the Activin Receptor-Like Kinase 7 Influences Body Fat Distribution and Protects Against Type 2 Diabetes. Diabetes. 2019;68(1):226-234. doi:10.2337/db18-0857.

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.

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.

Biesecker LG, Nussbaum RL, Rehm HL. Distinguishing Variant Pathogenicity From Genetic Diagnosis: How to Know Whether a Variant Causes a Condition. JAMA. 2018;320(18):1929-1930. doi:10.1001/jama.2018.14900.

Wang M, Lee-Kim VS, Atri DS, et al. Rare, Damaging DNA Variants in CORIN and Risk of Coronary Artery Disease: Insights From Functional Genomics and Large-Scale Sequencing Analyses. Circ Genom Precis Med. 2021;14(5):e003399. doi:10.1161/CIRCGEN.121.003399.

Kelly M, Pasmans F, Muñoz JF, et al. Diversity, multifaceted evolution, and facultative saprotrophism in the European Batrachochytrium salamandrivorans epidemic. Nat Commun. 2021;12(1):6688. doi:10.1038/s41467-021-27005-0.

Stewart C, Leshchiner I, Hess J, Getz G. Comment on "DNA damage is a pervasive cause of sequencing errors, directly confounding variant identification". Science. 2018;361(6409). doi:10.1126/science.aas9824.

Guo MH, Plummer L, Chan Y-M, Hirschhorn JN, Lippincott MF. Burden Testing of Rare Variants Identified through Exome Sequencing via Publicly Available Control Data. Am J Hum Genet. 2018;103(4):522-534. doi:10.1016/j.ajhg.2018.08.016.

Groussin M, Poyet M, Sistiaga A, et al. Elevated rates of horizontal gene transfer in the industrialized human microbiome. Cell. 2021;184(8):2053-2067.e18. doi:10.1016/j.cell.2021.02.052.

Schiff ER, Frampton M, Ben-Yosef N, et al. Rare coding variant analysis in a large cohort of Ashkenazi Jewish families with inflammatory bowel disease. Hum Genet. 2018;137(9):723-734. doi:10.1007/s00439-018-1927-7.