An estimate of the average number of recessive lethal mutations carried by humans

Genetics

Volumn 199, Issue 4, 2015, Pages 1243-1254

  Gao, Ziyue ^a   Waggoner, Darrel ^a   Stephens, Matthew ^a   Ober, Carole ^a   Przeworski, Molly ^b  

^a UNIVERSITY OF CHICAGO   (United States)

^b Och Spine at New York Presbyterian Hospitals   (United States)

Author keywords

Autosomal recessive disease; Consanguinity; Human; Inbreeding; Recessive lethal mutation

Indexed keywords

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOME; BIRTH; COMMUNAL LIFESTYLE; CYSTIC FIBROSIS; DEATH; EUKARYOTE; GENE MUTATION; GENETIC DISORDER; GENOME SIZE; HAPLOIDY; HETEROZYGOTE; HOMOZYGOTE; HUMAN; LIFESTYLE; MAJOR CLINICAL STUDY; MOTOR DYSFUNCTION; MYOPATHY; NONSYNDROMIC MENTAL RETARDATION; PEDIGREE ANALYSIS; POPULATION GENETICS; PRIORITY JOURNAL; RECESSIVE GENE; REPRODUCTION; RESTRICTIVE DERMOPATHY; SIMULATION; BIOLOGICAL MODEL; GENE FREQUENCY; HUMAN GENOME; LETHAL GENE; PEDIGREE;

EUKARYOTA;

GENE FREQUENCY; GENES, LETHAL; GENES, RECESSIVE; GENOME, HUMAN; HUMANS; MODELS, GENETIC; PEDIGREE;

EID: 84926500255     PISSN: 00166731     EISSN: 19432631     Source Type: Journal    
DOI: 10.1534/genetics.114.173351     Document Type: Article

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