Analysis and annotation of whole-genome or whole-exome sequencing-derived variants for clinical diagnosis

Current Protocols in Human Genetics

Volumn , Issue SUPPL.79, 2013, Pages

  Worthey, Elizabeth A ^a,b  

^a MEDICAL COLLEGE OF WISCONSIN   (United States)

^b University of Wisconsin Milwaukee   (United States)

Author keywords

Genome variant annotation; Genome variant identification; Genome variant interpretation; Sequencing

Indexed keywords

ALGORITHM; ARTICLE; BIOINFORMATICS; CLINICAL MEDICINE; DATA ANALYSIS; GENE DELETION; GENE FREQUENCY; GENE INSERTION; GENE MAPPING; GENETIC DATABASE; GENETIC PROCEDURES; GENETIC VARIABILITY; HUMAN; INDEL MUTATION; MOLECULAR DIAGNOSIS; MOLECULAR GENETICS; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ALIGNMENT; SINGLE NUCLEOTIDE POLYMORPHISM; WHOLE EXOME SEQUENCING; WHOLE GENOME SEQUENCING;

EID: 84896323921     PISSN: 19348266     EISSN: 19348258     Source Type: Journal    
DOI: 10.1002/0471142905.hg0924s79     Document Type: Article

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