A suite of automated sequence analyses reduces the number of candidate deleterious variants and reveals a difference between probands and unaffected siblings
Gu F, Wu A, Gordon M, Vlahos L, Macnamara S, Burke E, Malicdan M, Adams D, Tifft C, Toro C, Gahl W, Markello T. A suite of automated sequence analyses reduces the number of candidate deleterious variants and reveals a difference between probands and unaffected siblings. Genetics In Medicine 2019, 21: 1772-1780. PMID: 30700791, PMCID: PMC6669106, DOI: 10.1038/s41436-019-0434-0.Peer-Reviewed Original Research