VAR-MD: A tool to analyze whole exome-genome variants in small human pedigrees with mendelian inheritance

Human Mutation

Volumn 33, Issue 4, 2012, Pages 593-598

  Sincan, Murat ^a   Simeonov, Dimitre R ^b   Adams, David ^a,b   Markello, Thomas C ^a,b   Pierson, Tyler M ^a,c,d   Toro, Camilo ^b   Gahl, William A ^a,b   Boerkoel, Cornelius F ^b  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

^c CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

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

Author keywords

Exome; Mendelian; Next generation sequencing; Variant filtering

Indexed keywords

GENOMIC DNA;

ARTICLE; COMPUTER PROGRAM; DATA BASE; DNA SEQUENCE; EXOME; GENE FREQUENCY; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC VARIABILITY; GENOTYPE; HUMAN; MENDELIAN RANDOMIZATION ANALYSIS; PATHOGENICITY; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

BETA-GALACTOSIDASE; EXOME; FEMALE; GENE FREQUENCY; GENETIC VARIATION; HUMANS; MALE; MIXED FUNCTION OXYGENASES; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; REPRODUCIBILITY OF RESULTS; SOFTWARE;

EID: 84858278790     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22034     Document Type: Article

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