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2012年自闭症家系的928个外显子测序数据!

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发表于 2017-1-31 10:58:09 | 显示全部楼层 |阅读模式
发表于20125月,到目前为止(201713110:58:04)被引用了1037次啦!
文章是:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3667984/
测了238个四口之家,都是外显子测序!(所以可以找 de novo SNVs
Autism SpectrumDisorders (ASD) 自闭症我就不多说了。
注意家族性遗传病的probandsibling ,这些概念很重要!

里面用到了PolyPhen2,13 SIFT,14 GERP,15PhyloP,16 or Grantham Score1这些软件来判断找到的de novo SNVs的疾病影响力
Sample selection
238 families (928 individuals) wereselected from the SSC on the basis of: male probands with autism, low NVIQ, anddiscordant SRS with sibling and parents (n=40); female probands (n=46);multiple unaffected siblings (n=28); probands with known multigenic CNVs(n=15); and random selection (n=109). Thirteen families (6%) did not passquality control (Supplementary Information) leaving 225 families (200 quartets, 25 trios) for analysis (Supplementary_Data_1). Of the 200 quartets, 194 (97%) probands had a diagnosis of autism and 6(3%) were diagnosed with ASD; the median non-verbal IQ was 84. Three of thesequartets have previously been reported as trios;4 there is no overlap between the current sample and those presented in thecompanion article.



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