IBDfinder and SNPsetter: Tools for pedigree-independent identification of autozygous regions in individuals with recessive inherited disease

Human Mutation

Volumn 30, Issue 6, 2009, Pages 960-967

  Carr, Ian M ^a,b   Sheridan, Eamonn ^a   Hayward, Bruce E ^a   Markham, Alexander F ^a   Bonthron, David T ^a  

^a UNIVERSITY OF LEEDS   (United Kingdom)

^b ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

Author keywords

Autosomal recessive; Autozygosity; Homozygosity mapping inbreeding; SNP; Software

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; COMPUTER PROGRAM; GENE IDENTIFICATION; GENE LOCUS; GENE MAPPING; GENOTYPE; HOMOZYGOSITY; HUMAN; HYDATIDIFORM MOLE; LINKAGE ANALYSIS; MICROSATELLITE MARKER; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

CHROMOSOMES, HUMAN; COMPUTATIONAL BIOLOGY; FEMALE; GENES, RECESSIVE; GENETIC DISEASES, INBORN; GENETIC MARKERS; HOMOZYGOTE; HUMANS; HYDATIDIFORM MOLE; MALE; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; PREGNANCY; SOFTWARE; UTERINE NEOPLASMS;

EID: 66349109623     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20974     Document Type: Article

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