Open AccessA comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases
Author(s) -
Miaoxin Li,
Hongsheng Gui,
Johnny S. H. Kwan,
Suying Bao,
Pak C. Sham
Publication year - 2012
Publication title -
nucleic acids research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 9.008
H-Index - 537
eISSN - 1362-4954
pISSN - 0305-1048
DOI - 10.1093/nar/gkr1257
Subject(s) - exome sequencing , biology , exome , mendelian inheritance , computational biology , genetics , mutation , human genetics , dna sequencing , gene
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