Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications

Nature Genetics

Volumn 46, Issue 8, 2014, Pages 912-918

  Rimmer, Andy ^a   Phan, Hang ^a   Mathieson, Iain ^a   Iqbal, Zamin ^a   Twigg, Stephen R F ^b   Wilkie, Andrew O M ^b   Mcvean, Gil ^a,c   Lunter, Gerton ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b UNIVERSITY OF OXFORD   (United Kingdom)

^c UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

HLA ANTIGEN;

ARTICLE; BAYES THEOREM; CONTROLLED STUDY; DATA ANALYSIS SOFTWARE; DNA SEQUENCE; EXOME; GENOME ANALYSIS; GENOTYPE; HAPLOTYPE MAP; HIGH THROUGHPUT SEQUENCING; HUMAN; HUMAN CELL; INDEL MUTATION; PRIORITY JOURNAL; PROBABILITY; SENSITIVITY AND SPECIFICITY; SINGLE NUCLEOTIDE POLYMORPHISM; ALGORITHM; CHROMOSOME MAP; COMPUTER PROGRAM; GENETIC VARIABILITY; GENETICS; HAPLOTYPE; HUMAN GENOME; MUTATION; PROCEDURES;

ALGORITHMS; CHROMOSOME MAPPING; EXOME; GENOME, HUMAN; GENOMIC STRUCTURAL VARIATION; GENOTYPE; HAPLOTYPES; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HLA ANTIGENS; HUMANS; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; SENSITIVITY AND SPECIFICITY; SEQUENCE ANALYSIS, DNA; SOFTWARE;

EID: 84905576523     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.3036     Document Type: Article

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