Comparison of GENCODE and RefSeq gene annotation and the impact of reference geneset on variant effect prediction

被引：0
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作者：
Adam Frankish
Barbara Uszczynska
Graham RS Ritchie
Jose M Gonzalez
Dmitri Pervouchine
Robert Petryszak
Jonathan M Mudge
Nuno Fonseca
Alvis Brazma
Roderic Guigo
Jennifer Harrow
机构：
[1] Wellcome Trust Genome Campus,Wellcome Trust Sanger Institute
[2] Centre for Genomic Regulation,European Molecular Biology Laboratory
[3] European Bioinformatics Institute,Faculty of Bioengineering and Bioinformatics, 119992 Moscow GSP
[4] Wellcome Trust Genome Campus,2, Leninskie Gory
[5] Moscow State University 1-73,undefined
来源：
BMC Genomics | / 16卷
关键词：
Variant Annotation; Nonsense Mediate Decay; Exome Sequencing Project; Transcript Annotation; Variant Effect Predictor;
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