Lemire G, Sanchis-Juan A, Russell K, et al. Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease. American journal of human genetics. 2024. doi:10.1016/j.ajhg.2024.03.008.

Schmidt RJ, Steeves M, Bayrak-Toydemir P, et al. Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group. Genetics in medicine : official journal of the American College of Medical Genetics. 2023;26(3):101036. doi:10.1016/j.gim.2023.101036.

Singer-Berk M, Gudmundsson S, Baxter S, et al. Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data. American journal of human genetics. 2023. doi:10.1016/j.ajhg.2023.08.005.

Lue NZ, Liau BB. Base editor screens for in situ mutational scanning at scale. Molecular cell. 2023. doi:10.1016/j.molcel.2023.06.009.

Walker LC, de la Hoya M, Wiggins GAR, et al. Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup. American journal of human genetics. 2023. doi:10.1016/j.ajhg.2023.06.002.