Variant detection sensitivity and biases in whole genome and exome sequencing

BMC Bioinformatics

Volumn 15, Issue 1, 2014, Pages

  Meynert, Alison M ^a   Ansari, Morad ^a   FitzPatrick, David R ^a   Taylor, Martin S ^a  

^a UNIVERSITY OF EDINBURGH   (United Kingdom)

Author keywords

Exome sequencing; Next generation sequencing; Protein coding genes; Sensitivity; SNP; Whole genome sequencing

Indexed keywords

ALLELE; ARTICLE; DNA SEQUENCE; EXOME; GENETICS; GENOMICS; HUMAN; HUMAN GENOME; METHODOLOGY; OPEN READING FRAME; SINGLE NUCLEOTIDE POLYMORPHISM;

ALLELES; EXOME; GENOME, HUMAN; GENOMICS; HUMANS; OPEN READING FRAMES; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA;

EXOME SEQUENCING; NEXT-GENERATION SEQUENCING; PROTEIN-CODING GENES; SENSITIVITY; SNP; WHOLE GENOME SEQUENCING;

EID: 84905281076     PISSN: None     EISSN: 14712105     Source Type: Journal    
DOI: 10.1186/1471-2105-15-247     Document Type: Article

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