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Measuring coverage and accuracy of whole-exome sequencing in clinical context.

Kong SW, Lee IH, Liu X, Hirschhorn JN, Mandl KD. Measuring coverage and accuracy of whole-exome sequencing in clinical context. Genet Med. 2018;20(12):1617-1626. doi:10.1038/gim.2018.51

Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.

Saleheen D, Natarajan P, Armean IM, et al. Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity. Nature. 2017;544(7649):235-239. doi:10.1038/nature22034

Analysis of the ACTN3 heterozygous genotype suggests that α-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashion.

Hogarth MW, Garton FC, Houweling PJ, et al. Analysis of the ACTN3 heterozygous genotype suggests that α-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashion. Hum Mol Genet. 2016;25(5):866-77. doi:10.1093/hmg/ddv613

Health and population effects of rare gene knockouts in adult humans with related parents.

Narasimhan VM, Hunt KA, Mason D, et al. Health and population effects of rare gene knockouts in adult humans with related parents. Science. 2016;352(6284):474-7. doi:10.1126/science.aac8624

Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis.

Levine RL, Wadleigh M, Cools J, et al. Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell. 2005;7(4):387-97. doi:10.1016/j.ccr.2005.03.023

Rare variant in scavenger receptor BI raises HDL cholesterol and increases risk of coronary heart disease.

Zanoni P, Khetarpal SA, Larach DB, et al. Rare variant in scavenger receptor BI raises HDL cholesterol and increases risk of coronary heart disease. Science. 2016;351(6278):1166-71. doi:10.1126/science.aad3517

Chromosomes 6 and 13 harbor genes that regulate pubertal timing in mouse chromosome substitution strains.

Krewson TD, Supelak PJ, Hill AE, et al. Chromosomes 6 and 13 harbor genes that regulate pubertal timing in mouse chromosome substitution strains. Endocrinology. 2004;145(10):4447-51. doi:10.1210/en.2004-0543

COMT Val(158) Met genotype is associated with reward learning: a replication study and meta-analysis.

Corral-Frías NS, Pizzagalli DA, Carré JM, et al. COMT Val(158) Met genotype is associated with reward learning: a replication study and meta-analysis. Genes Brain Behav. 2016;15(5):503-13. doi:10.1111/gbb.12296

Absolute quantification of somatic DNA alterations in human cancer.

Carter SL, Cibulskis K, Helman E, et al. Absolute quantification of somatic DNA alterations in human cancer. Nat Biotechnol. 2012;30(5):413-21. doi:10.1038/nbt.2203

Variants within the SP110 nuclear body protein modify risk of canine degenerative myelopathy.

Ivansson EL, Megquier K, Kozyrev SV, et al. Variants within the SP110 nuclear body protein modify risk of canine degenerative myelopathy. Proc Natl Acad Sci U S A. 2016;113(22):E3091-100. doi:10.1073/pnas.1600084113