Open AccessInterpretable prioritization of splice variants in diagnostic next-generation sequencing
Author(s) -
Daniel Daniš,
Julius O.B. Jacobsen,
Leigh Carmody,
Michael Gargano,
Julie A. McMurry,
Ayushi Hegde,
Melissa Haendel,
Giorgio Valentini,
Damian Smedley,
Peter N. Robinson
Publication year - 2021
Publication title -
the american journal of human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 6.661
H-Index - 302
eISSN - 1537-6605
pISSN - 0002-9297
DOI - 10.1016/j.ajhg.2021.09.014
Subject(s) - splice , computational biology , rna splicing , genetics , intron , exon , prioritization , splice site mutation , sequence (biology) , biology , alternative splicing , computer science , gene , rna , engineering , management science
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