Art

J-GLOBAL ID：201002263178290006   Reference number：10A0535065

Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing

4人家族の全ゲノム配列解析による遺伝の分析

Author (16)： ROACH Jared C. (Inst. Systems Biology, WA, USA) ,  GLUSMAN Gustavo (Inst. Systems Biology, WA, USA) ,  SMIT Arian F. A. (Inst. Systems Biology, WA, USA) ,  HUFF Chad D. (Inst. Systems Biology, WA, USA) ,  HUFF Chad D. (Univ. Utah, UT, USA) ,  HUBLEY Robert (Inst. Systems Biology, WA, USA) ,  SHANNON Paul T. (Inst. Systems Biology, WA, USA) ,  ROWEN Lee (Inst. Systems Biology, WA, USA) ,  PANT Krishna P. (Complete Genomics, Inc. (CGI), CA, USA) ,  GOODMAN Nathan (Inst. Systems Biology, WA, USA) ,  BAMSHAD Michael (Univ. Washington, WA, USA) ,  SHENDURE Jay (Univ. Washington, WA, USA) ,  DRMANAC Radoje (Complete Genomics, Inc. (CGI), CA, USA) ,  JORDE Lynn B. (Univ. Utah, UT, USA) ,  HOOD Leroy (Inst. Systems Biology, WA, USA) ,  GALAS David J. (Inst. Systems Biology, WA, USA)
Material： Science
Volume： 328  Issue： 5978  Page： 636-639  Publication year： Apr. 30, 2010 
JST Material Number： E0078A  ISSN： 0036-8075  CODEN： SCIEA  Document type： Article
Article type： 原著論文  Country of issue： United States (USA)  Language： ENGLISH (EN)

Thesaurus term： chromosome ,  genome ,  *Mutation ,  single nucleotide polymorphism ,  respiratory tract disease ,  otorhinolaryngologic disease ,  *nucleotide sequence ,  *homology (characteristic) ,  haploid ,  diploid ,  meiosis ,  chromosome cross ,  hereditary disease ,  genetic algorithm ,  Genotype ,  sensitivity ,  base pair substitution ,  family relation ,  analysis ,  transition (genetics) ,  transversion (genetics) ,  Genetic Predisposition to Disease ,  natural mutation ,  genetic code analysis ,  Genetic Variation ,  Nucleic Acid Sequence Homology ,  cross ,  cellular genetic phenomenon ,  evolutionary computation
Semi thesaurus term： genetic variation ,  Mendelian disorder ,  Crossing Over, Genetic ,  hereditary disease ,  homology, base sequence ,  Ciliary Motility Disorders

JST classification (2)： Diagnostics of congenital diseases, deformities.  (GD03020G) ,  Structure and chemistry of genes  (EC02020U)

Terms in the title (5)： 家族 ,  ゲノム ,  配列解析 ,  遺伝 ,  分析