Retrotransposon insertion as a novel mutational event in Bardet ‐Biedl syndrome

ConclusionThis report documents a novel mutation type associated with BBS and highlights the importance of systematically performing transposon detection analysis on WGS data of unsolved cases.

Source: Molecular Genetics & Genomic Medicine - November 28, 2018 Category: Genetics & Stem Cells Authors: Erika Tavares, Chen Yu Tang, Anjali Vig, Shuning Li, Gail Billingsley, Wilson Sung, Ajoy Vincent, Bhooma Thiruvahindrapuram, Elise H éon Tags: ORIGINAL ARTICLE Source Type: research