UBC Faculty Research and Publications

FLAGS, frequently mutated genes in public exomes Shyr, Casper; Tarailo-Graovac, Maja; Gottlieb, Michael; Lee, Jessica J; van Karnebeek, Clara; Wasserman, Wyeth W


Background: Dramatic improvements in DNA-sequencing technologies and computational analyses have led to wide use of whole exome sequencing (WES) to identify the genetic basis of Mendelian disorders. More than 180 novel rare-disease-causing genes with Mendelian inheritance patterns have been discovered through sequencing the exomes of just a few unrelated individuals or family members. As rare/novel genetic variants continue to be uncovered, there is a major challenge in distinguishing true pathogenic variants from rare benign mutations. Methods We used publicly available exome cohorts, together with the dbSNP database, to derive a list of genes (n = 100) that most frequently exhibit rare (

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