Autozygosity Mapping with Exome Sequence Data-Reference-Cited by-同舟云学术

Autozygosity Mapping with Exome Sequence Data

Published:2012-10-22 Issue:1 Volume:34 Page:50-56
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Carr Ian M.¹,Bhaskar Sanjeev²,O’ Sullivan James²,Aldahmesh Mohammed A.³,Shamseldin Hanan E.³,Markham Alexander F.¹,Bonthron David T.¹,Black Graeme²,Alkuraya Fowzan S.

Affiliation:

1. School of Medicine, University of Leeds; Leeds; United Kingdom

2. Genetic Medicine Research Group, Manchester Biomedical Research Centre; Manchester Academic Health Sciences Centre; University of Manchester and Central Manchester Foundation Trust, St Mary's Hospital; Manchester; United Kingdom

3. Developmental Genetics Unit; King Faisal Specialist Hospital and Research Center; Riyadh; Saudi Arabia

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference12 articles.

1. Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus;Aldahmesh;Hum Mutat,2012

2. Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families;Carr;Hum Mutat,2006

3. IBDfinder and SNPsetter: tools for pedigree-independent identification of autozygous regions in individuals with recessive inherited disease;Carr;Hum Mutat,2009

4. Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth;Hanson;Am J Hum Genet,2011

5. Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children;Lander;Science,1987

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