Article
Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies.
Scientific reports - 5 Feb 2018
Leung Gordon K C, Luk H M, Tang Vincent H M, Gao W W, Mak Christopher C Y, Yu Mullin H C, Wong W L, Chu Yoyo W Y, Yang W L, Wong Wilfred H S, Ma Alvin C H, Leung Anskar Y H, Jin D Y, Chan Kelvin Y K, Allanson Judith, Lo Ivan F M, Chung Brian H Y
Abstract excerpt
RASopathies are a group of heterogeneous conditions caused by germline mutations in RAS/MAPK signalling pathway genes. With next-generation sequencing (NGS), sequencing capacity is no longer a limitation to molecular diagnosis. Instead, the rising number of variants of unknown significance (VUSs) poses challenges to clinical interpretation and genetic counselling. We investigated the potential of an integrated...
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