Increased rate of deleterious variants in long runs of homozygosity of an inbred population from Qatar

Human Heredity

Volumn 79, Issue 1, 2015, Pages 14-19

  Mezzavilla, Massimo ^a,b   Vozzi, Diego ^a   Badii, Ramin ^c   Khalifa Alkowari, Moza ^c   Abdulhadi, Khalid ^d   Girotto, Giorgia ^b   Gasparini, Paolo ^a,b  

^a INSTITUTE FOR MATERNAL AND CHILD HEALTH IRCCS BURLO GAROFOLO   (Italy)

^b UNIVERSITY OF TRIESTE   (Italy)

^c Department of Laboratory of Medicine and Pathology ^*  (Italy)

^d HAMAD MEDICAL CORPORATION   (Qatar)

Author keywords

Deleterious variants; Inbreeding; Qatar; Runs of homozygosity; Whole exome sequencing

Indexed keywords

CAST PROTEIN; CKAP5 PROTEIN; ERAP PROTEIN; LNPEP PROTEIN; LOW LIPOPROTEIN RECEPTOR RELATED PROTEIN 4; PROTEIN; RIO KINASE 2; UNCLASSIFIED DRUG;

ARTICLE; COHORT ANALYSIS; GENETIC CONSERVATION; GENETIC PROCEDURES; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE MAP; HOMOZYGOSITY; HUMAN; INBREEDING; QATAR; SINGLE NUCLEOTIDE POLYMORPHISM; WHOLE EXOME SEQUENCING; CONSANGUINITY; HOMOZYGOTE; MUTATION;

COHORT STUDIES; CONSANGUINITY; HOMOZYGOTE; HUMANS; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; QATAR;

EID: 84924092013     PISSN: 00015652     EISSN: 14230062     Source Type: Journal    
DOI: 10.1159/000371387     Document Type: Article

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