Single-nucleotide evolutionary constraint scores highlight disease-causing mutations.
作者信息
Cooper Gregory M, Goode David L, Ng Sarah B, Sidow Arend, Bamshad Michael J, Shendure Jay, Nickerson Deborah A
出版信息
Nat Methods. 2010 Apr;7(4):250-1. doi: 10.1038/nmeth0410-250.
Abstract
摘要
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本文引用的文献
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Evolutionary constraint facilitates interpretation of genetic variation in resequenced human genomes.进化约束有助于解释重测序人类基因组中的遗传变异。
Genome Res. 2010 Mar;20(3):301-10. doi: 10.1101/gr.102210.109. Epub 2010 Jan 12.
2
Exome sequencing identifies the cause of a mendelian disorder.外显子组测序确定了一种孟德尔疾病的病因。
Nat Genet. 2010 Jan;42(1):30-5. doi: 10.1038/ng.499. Epub 2009 Nov 13.
3
Targeted capture and massively parallel sequencing of 12 human exomes.12个人类外显子组的靶向捕获和大规模平行测序
Nature. 2009 Sep 10;461(7261):272-6. doi: 10.1038/nature08250. Epub 2009 Aug 16.
4
Distribution and intensity of constraint in mammalian genomic sequence.哺乳动物基因组序列中限制的分布与强度
Genome Res. 2005 Jul;15(7):901-13. doi: 10.1101/gr.3577405. Epub 2005 Jun 17.
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Listening to silence and understanding nonsense: exonic mutations that affect splicing.倾听沉默，理解无意义：影响剪接的外显子突变
Nat Rev Genet. 2002 Apr;3(4):285-98. doi: 10.1038/nrg775.
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Prediction of deleterious human alleles.有害人类等位基因的预测
Hum Mol Genet. 2001 Mar 15;10(6):591-7. doi: 10.1093/hmg/10.6.591.
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