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HDR: a statistical two-step approach successfully identifies disease genes in autosomal recessive families
Imai, Atsuko1,2,3,4,5; Kohda, Masakazu6; Nakaya, Akihiro2; Sakata, Yasushi1; Murayama, Kei7; Ohtake, Akira8; Lathrop, Mark4,5; Okazaki, Yasushi6,9; Ott, Jurg3,10
2016-11-01
发表期刊JOURNAL OF HUMAN GENETICS
ISSN1434-5161
文章类型Article
卷号61期号:11页码:959-963
摘要

In the search for sequence variants underlying disease, commonly applied filtering steps usually result in a number of candidate variants that cannot further be narrowed down. In autosomal recessive families, disease usually occurs only in one generation so that genetic linkage analysis is unlikely to help. Because homozygous recessive mutations tend to be inherited together with flanking homozygous variants, we developed a statistical method to detect pathogenic variants in autosomal recessive families: We look for differences in patterns of homozygosity around candidate variants between patients and control individuals and expect that such differences are greater for pathogenic variants than random candidate variants. In six autosomal recessive mitochondrial disease families, in which pathogenic homozygous variants have already been identified, our approach succeeded in prioritizing pathogenic mutations. Our method is applicable to single patients from recessive families with at least a few dozen control individuals from the same population; it is easy to use and is highly effective for detecting causative mutations in autosomal recessive families.

DOI10.1038/jhg.2016.85
收录类别SCI
语种英语
项目资助者Japan Society for the Promotion of Science (JSPS) KAKENHI(JP16K19404) ; grant of Strategic Research Center in Private Universities from the Ministry of Education, Culture, Sports, Science and Technology (MEXT), Japan ; Practical Research Project for Rare/Intractable Diseases from Japan Agency for Medical Research and Development (AMED) ; NSFC from the Chinese Government(31470070)
WOS研究方向Genetics & Heredity
WOS类目Genetics & Heredity
WOS记录号WOS:000389470300007
WOS标题词Science & Technology ; Life Sciences & Biomedicine
关键词[WOS]FALSE-POSITIVE PEAKS ; GENOMEWIDE SCANS ; HAMMING DISTANCE ; SEQUENCING DATA ; HOMOZYGOSITY ; TRUE ; MUTATIONS ; CHILDREN ; LENGTH ; DNA
引用统计
被引频次:4[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.psych.ac.cn/handle/311026/20942
专题健康与遗传心理学研究室
作者单位1.Osaka Univ, Dept Cardiovasc Med, Grad Sch Med, Osaka, Japan
2.Osaka Univ, Dept Genome Informat, Grad Sch Med, Osaka, Japan
3.Rockefeller Univ, Lab Stat Genet, 1230 York Ave, New York, NY 10065 USA
4.McGill Univ, Montreal, PQ, Canada
5.Genome Quebec Innovat Ctr, Montreal, PQ, Canada
6.Saitama Med Univ, Res Ctr Genom Med, Div Translat Res, 1397-1 Yamane, Hidaka City, Saitama 3501241, Japan
7.Chiba Childrens Hosp, Dept Metab, Chiba, Japan
8.Saitama Med Univ, Dept Pediat, Saitama, Japan
9.Saitama Med Univ, Res Ctr Genom Med, Div Funct Genom & Syst Med, Saitama, Japan
10.Chinese Acad Sci, Inst Psychol, Beijing, Peoples R China
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GB/T 7714
Imai, Atsuko,Kohda, Masakazu,Nakaya, Akihiro,et al. HDR: a statistical two-step approach successfully identifies disease genes in autosomal recessive families[J]. JOURNAL OF HUMAN GENETICS,2016,61(11):959-963.
APA Imai, Atsuko.,Kohda, Masakazu.,Nakaya, Akihiro.,Sakata, Yasushi.,Murayama, Kei.,...&Ott, Jurg.(2016).HDR: a statistical two-step approach successfully identifies disease genes in autosomal recessive families.JOURNAL OF HUMAN GENETICS,61(11),959-963.
MLA Imai, Atsuko,et al."HDR: a statistical two-step approach successfully identifies disease genes in autosomal recessive families".JOURNAL OF HUMAN GENETICS 61.11(2016):959-963.
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