Shadow autozygosity mapping by linkage exclusion (SAMPLE): a simple strategy to identify the genetic basis of lethal autosomal recessive disorders
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.21105/fullpdf
Reference24 articles.
1. Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta;Barnes;N Engl J Med,2006
2. Consanguinity and its relevance to clinical genetics;Bittles;Clin Genet,2001
3. A five-year prospective study of the health of children in different ethnic groups, with particular reference to the effect of inbreeding;Bundey;Eur J Hum Genet,1993
4. Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families;Carr;Hum Mut,2006
5. IBDfinder and SNPsetter: tools for pedigree-independent identification of autozygous regions in individuals with recessive inherited disease;Carr;Hum Mut,2009
Cited by 5 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. HomozygosityMapper2012--bridging the gap between homozygosity mapping and deep sequencing;Nucleic Acids Research;2012-06-04
2. Estimating the degree of identity by descent in consanguineous couples;Human Mutation;2011-09-23
3. SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease;Journal of Neurology;2011-09-04
4. SNP-array based whole genome homozygosity mapping: A quick and powerful tool to achieve an accurate diagnosis in LGMD2 patients;European Journal of Medical Genetics;2011-05
5. Familial cutaneous lupus erythematosus (CLE) in the German shorthaired pointer maps to CFA18, a canine orthologue to human CLE;Immunogenetics;2010-12-04
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3