Analysis of DNA sequence variants detected by high-throughput sequencing

Human Mutation

Volumn 33, Issue 4, 2012, Pages 599-608

  Adams, David R ^a,b   Sincan, Murat ^b   Fuentes Fajardo, Karin ^a   Mullikin, James C ^b   Pierson, Tyler M ^a,c   Toro, Camilo ^a   Boerkoel, Cornelius F ^a   Tifft, Cynthia J ^a,b   Gahl, William A ^a,b   Markello, Tom C ^b  

^a NATIONAL INSTITUTES OF HEALTH   (United States)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^c NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

Author keywords

Exome; Genomics; Molecular diagnosis; Next generation sequencing

Indexed keywords

ARTICLE; DNA DETERMINATION; DNA SEQUENCE; EXOME; FAMILY; GENE; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE; HIGH THROUGHPUT SEQUENCING; HUMAN; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

EXOME; FAMILY; GENETIC DISEASES, INBORN; GENETIC VARIATION; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; SOFTWARE;

EID: 84858276575     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22035     Document Type: Article

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