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Genome-wide detection of human variants that disrupt intronic branchpoints / Zhang, Peng (The Rockefeller University) ; Philippot, Quentin (Paris Cité University) ; Ren, Weicheng (Karolinska Institutet (Estocolm, Suècia)) ; Lei, Wei-Te (The Rockefeller University) ; Li, Juan (The Rockefeller University) ; Stenson, Peter D. (Cardiff University) ; Soler-Palacín, Pere (Hospital Universitari Vall d'Hebron) ; Colobrán Oriol, Roger (Hospital Universitari Vall d'Hebron) ; Boisson, Bertrand (Paris Cité University) ; Zhang, Shen-Ying (Paris Cité University) ; Puel, Anne (Paris Cité University) ; Pan-Hammarström, Qiang (Karolinska Institutet (Estocolm, Suècia)) ; Zhang, Qian (Paris Cité University) ; Cooper, David N. (Cardiff University) ; Abel, Laurent (Paris Cité University, Imagine Institute) ; Casanova, Jean-Laurent (HHMI) ; Universitat Autònoma de Barcelona
The search for candidate variants underlying human disease in massive parallel sequencing data typically focuses on coding regions and essential splice sites, mostly ignoring noncoding variants. The RNA spliceosome recognizes intronic branchpoint (BP) motifs at the beginning of splicing and operates mostly within introns to define the exon-intron boundaries; however, BP variants have been paid little attention. [...]
2022 - DOI (Digital Object Identifier)

10.1073/pnas.2211194119
Proceedings of the National Academy of Sciences of the United States of America, Vol. 119 (october 2022)

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