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Literature DB >> 22936163

Evolutionary diagnosis method for variants in personal exomes.

Sudhir Kumar, Maxwell Sanderford, Vanessa E Gray, Jieping Ye, Li Liu.

Abstract

Entities: Chemical Disease Gene Species

Mesh：

Year: 2012 PMID： 22936163 PMCID： PMC3810944 DOI： 10.1038/nmeth.2147

Source DB: PubMed Journal: Nat Methods ISSN： 1548-7091 Impact factor: 28.547

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2. Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel.

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Journal: Am J Hum Genet Date: 2011-03-31 Impact factor: 11.025

3. Evolution and functional impact of rare coding variation from deep sequencing of human exomes.

Authors: Jacob A Tennessen; Abigail W Bigham; Timothy D O'Connor; Wenqing Fu; Eimear E Kenny; Simon Gravel; Sean McGee; Ron Do; Xiaoming Liu; Goo Jun; Hyun Min Kang; Daniel Jordan; Suzanne M Leal; Stacey Gabriel; Mark J Rieder; Goncalo Abecasis; David Altshuler; Deborah A Nickerson; Eric Boerwinkle; Shamil Sunyaev; Carlos D Bustamante; Michael J Bamshad; Joshua M Akey
Journal: Science Date: 2012-05-17 Impact factor: 47.728

4. A method and server for predicting damaging missense mutations.

Authors: Ivan A Adzhubei; Steffen Schmidt; Leonid Peshkin; Vasily E Ramensky; Anna Gerasimova; Peer Bork; Alexey S Kondrashov; Shamil R Sunyaev
Journal: Nat Methods Date: 2010-04 Impact factor: 28.547

5. Performance of computational tools in evaluating the functional impact of laboratory-induced amino acid mutations.

Authors: Vanessa E Gray; Kimberly R Kukurba; Sudhir Kumar
Journal: Bioinformatics Date: 2012-06-08 Impact factor: 6.937

6. Targeted capture and massively parallel sequencing of 12 human exomes.

Authors: Sarah B Ng; Emily H Turner; Peggy D Robertson; Steven D Flygare; Abigail W Bigham; Choli Lee; Tristan Shaffer; Michelle Wong; Arindam Bhattacharjee; Evan E Eichler; Michael Bamshad; Deborah A Nickerson; Jay Shendure
Journal: Nature Date: 2009-08-16 Impact factor: 49.962

6 in total

42 in total

1. Whole-genome sequencing of the snub-nosed monkey provides insights into folivory and evolutionary history.

Authors: Xuming Zhou; Boshi Wang; Qi Pan; Jinbo Zhang; Sudhir Kumar; Xiaoqing Sun; Zhijin Liu; Huijuan Pan; Yu Lin; Guangjian Liu; Wei Zhan; Mingzhou Li; Baoping Ren; Xingyong Ma; Hang Ruan; Chen Cheng; Dawei Wang; Fanglei Shi; Yuanyuan Hui; Yujing Tao; Chenglin Zhang; Pingfen Zhu; Zuofu Xiang; Wenkai Jiang; Jiang Chang; Hailong Wang; Zhisheng Cao; Zhi Jiang; Baoguo Li; Guang Yang; Christian Roos; Paul A Garber; Michael W Bruford; Ruiqiang Li; Ming Li
Journal: Nat Genet Date: 2014-11-02 Impact factor: 38.330

2. Europeans have a higher proportion of high‑frequency deleterious variants than Africans.

Authors: Sankar Subramanian
Journal: Hum Genet Date: 2016-01 Impact factor: 4.132

Review 3. Integration of structural dynamics and molecular evolution via protein interaction networks: a new era in genomic medicine.

Authors: Avishek Kumar; Brandon M Butler; Sudhir Kumar; S Banu Ozkan
Journal: Curr Opin Struct Biol Date: 2015-12-09 Impact factor: 6.809

4. eXtasy: variant prioritization by genomic data fusion.

Authors: Alejandro Sifrim; Dusan Popovic; Leon-Charles Tranchevent; Amin Ardeshirdavani; Ryo Sakai; Peter Konings; Joris R Vermeesch; Jan Aerts; Bart De Moor; Yves Moreau
Journal: Nat Methods Date: 2013-09-29 Impact factor: 28.547

5. A commentary on identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness.

Authors: Katarina Pelin; Kirsi Kiiski; Vilma-Lotta Lehtokari; Carina Wallgren-Pettersson
Journal: J Hum Genet Date: 2015-01-15 Impact factor: 3.172

10. Biased gene conversion skews allele frequencies in human populations, increasing the disease burden of recessive alleles.

Authors: Joseph Lachance; Sarah A Tishkoff
Journal: Am J Hum Genet Date: 2014-10-02 Impact factor: 11.025