Literature DB >> 20354513

Single-nucleotide evolutionary constraint scores highlight disease-causing mutations.

Gregory M Cooper, David L Goode, Sarah B Ng, Arend Sidow, Michael J Bamshad, Jay Shendure, Deborah A Nickerson.   

Abstract

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Year:  2010        PMID： 20354513      PMCID： PMC3145250          DOI： 10.1038/nmeth0410-250

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


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  6 in total

1.  Prediction of deleterious human alleles.

Authors:  S Sunyaev; V Ramensky; I Koch; W Lathe; A S Kondrashov; P Bork
Journal:  Hum Mol Genet       Date:  2001-03-15       Impact factor: 6.150

Review 2.  Listening to silence and understanding nonsense: exonic mutations that affect splicing.

Authors:  Luca Cartegni; Shern L Chew; Adrian R Krainer
Journal:  Nat Rev Genet       Date:  2002-04       Impact factor: 53.242

3.  Distribution and intensity of constraint in mammalian genomic sequence.

Authors:  Gregory M Cooper; Eric A Stone; George Asimenos; Eric D Green; Serafim Batzoglou; Arend Sidow
Journal:  Genome Res       Date:  2005-06-17       Impact factor: 9.043

4.  Evolutionary constraint facilitates interpretation of genetic variation in resequenced human genomes.

Authors:  David L Goode; Gregory M Cooper; Jeremy Schmutz; Mark Dickson; Eidelyn Gonzales; Ming Tsai; Kalpana Karra; Eugene Davydov; Serafim Batzoglou; Richard M Myers; Arend Sidow
Journal:  Genome Res       Date:  2010-01-12       Impact factor: 9.043

5.  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.  Exome sequencing identifies the cause of a mendelian disorder.

Authors:  Sarah B Ng; Kati J Buckingham; Choli Lee; Abigail W Bigham; Holly K Tabor; Karin M Dent; Chad D Huff; Paul T Shannon; Ethylin Wang Jabs; Deborah A Nickerson; Jay Shendure; Michael J Bamshad
Journal:  Nat Genet       Date:  2009-11-13       Impact factor: 38.330
  6 in total
  108 in total

1.  Mapping rare and common causal alleles for complex human diseases.

Authors:  Soumya Raychaudhuri
Journal:  Cell       Date:  2011-09-30       Impact factor: 41.582

2.  Exome sequencing and the genetic basis of complex traits.

Authors:  Adam Kiezun; Kiran Garimella; Ron Do; Nathan O Stitziel; Benjamin M Neale; Paul J McLaren; Namrata Gupta; Pamela Sklar; Patrick F Sullivan; Jennifer L Moran; Christina M Hultman; Paul Lichtenstein; Patrik Magnusson; Thomas Lehner; Yin Yao Shugart; Alkes L Price; Paul I W de Bakker; Shaun M Purcell; Shamil R Sunyaev
Journal:  Nat Genet       Date:  2012-05-29       Impact factor: 38.330

Review 3.  Massively parallel sequencing and rare disease.

Authors:  Sarah B Ng; Deborah A Nickerson; Michael J Bamshad; Jay Shendure
Journal:  Hum Mol Genet       Date:  2010-09-15       Impact factor: 6.150

4.  Testing for Ancient Selection Using Cross-population Allele Frequency Differentiation.

Authors:  Fernando Racimo
Journal:  Genetics       Date:  2015-11-23       Impact factor: 4.562

5.  The PSEN1, p.E318G variant increases the risk of Alzheimer's disease in APOE-ε4 carriers.

Authors:  Bruno A Benitez; Celeste M Karch; Yefei Cai; Sheng Chih Jin; Breanna Cooper; David Carrell; Sarah Bertelsen; Lori Chibnik; Julie A Schneider; David A Bennett; Anne M Fagan; David Holtzman; John C Morris; Alison M Goate; Carlos Cruchaga
Journal:  PLoS Genet       Date:  2013-08-22       Impact factor: 5.917

6.  Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome.

Authors:  Naomi Hino-Fukuyo; Atsuo Kikuchi; Natsuko Arai-Ichinoi; Tetsuya Niihori; Ryo Sato; Tasuku Suzuki; Hiroki Kudo; Yuko Sato; Tojo Nakayama; Yosuke Kakisaka; Yuki Kubota; Tomoko Kobayashi; Ryo Funayama; Keiko Nakayama; Mitsugu Uematsu; Yoko Aoki; Kazuhiro Haginoya; Shigeo Kure
Journal:  Hum Genet       Date:  2015-04-16       Impact factor: 4.132

Review 7.  Comparative population genomics: power and principles for the inference of functionality.

Authors:  David S Lawrie; Dmitri A Petrov
Journal:  Trends Genet       Date:  2014-03-20       Impact factor: 11.639

8.  Discovery of mutations in homologous recombination genes in African-American women with breast cancer.

Authors:  Yuan Chun Ding; Aaron W Adamson; Linda Steele; Adam M Bailis; Esther M John; Gail Tomlinson; Susan L Neuhausen
Journal:  Fam Cancer       Date:  2018-04       Impact factor: 2.375

9.  Quantifying rare, deleterious variation in 12 human cytochrome P450 drug-metabolism genes in a large-scale exome dataset.

Authors:  Adam S Gordon; Holly K Tabor; Andrew D Johnson; Beverly M Snively; Themistocles L Assimes; Paul L Auer; John P A Ioannidis; Ulrike Peters; Jennifer G Robinson; Lara E Sucheston; Danxin Wang; Nona Sotoodehnia; Jerome I Rotter; Bruce M Psaty; Rebecca D Jackson; David M Herrington; Christopher J O'Donnell; Alexander P Reiner; Stephen S Rich; Mark J Rieder; Michael J Bamshad; Deborah A Nickerson
Journal:  Hum Mol Genet       Date:  2013-11-26       Impact factor: 6.150

10.  Purifying selection causes widespread distortions of genealogical structure on the human X chromosome.

Authors:  Brendan O'Fallon
Journal:  Genetics       Date:  2013-04-15       Impact factor: 4.562
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