Phenotype-driven strategies for exome prioritization of human Mendelian disease genes

Genome Medicine

Volumn 7, Issue 1, 2015, Pages

  Smedley, Damian ^a   Robinson, Peter N ^b,c,d  

^a WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^b CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^c MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^d FREIE UNIVERSITÄT BERLIN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; COMPARATIVE STUDY; EXOME; EXOMISER; EXTASY; GENE IDENTIFICATION; GENE MUTATION; GENETIC ALGORITHM; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC VARIABILITY; GENOME ANALYSIS; GENOMICS; HUMAN; MENDELIAN DISEASE; MOLECULAR GENETICS; NEXT GENERATION SEQUENCING; NONHUMAN; PHEN-GEN; PHENIX; PHENOTYPE; PHENOTYPE DRIVEN VARIANT ONTOLOGICAL RE-RANKING TOOL; PRIORITY JOURNAL; RECEIVER OPERATING CHARACTERISTIC; WHOLE EXOME SEQUENCING;

EID: 84939151435     PISSN: None     EISSN: 1756994X     Source Type: Journal    
DOI: 10.1186/s13073-015-0199-2     Document Type: Article

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