Literature DB >> 22628075

The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions.

Michael J Bamshad1, Jay A Shendure, David Valle, Ada Hamosh, James R Lupski, Richard A Gibbs, Eric Boerwinkle, Richard P Lifton, Mark Gerstein, Murat Gunel, Shrikant Mane, Deborah A Nickerson.   

Abstract

Next generation exome sequencing (ES) and whole genome sequencing (WGS) are new powerful tools for discovering the gene(s) that underlie Mendelian disorders. To accelerate these discoveries, the National Institutes of Health has established three Centers for Mendelian Genomics (CMGs): the Center for Mendelian Genomics at the University of Washington; the Center for Mendelian Genomics at Yale University; and the Baylor-Johns Hopkins Center for Mendelian Genomics at Baylor College of Medicine and Johns Hopkins University. The CMGs will provide ES/WGS and extensive analysis expertise at no cost to collaborating investigators where the causal gene(s) for a Mendelian phenotype has yet to be uncovered. Over the next few years and in collaboration with the global human genetics community, the CMGs hope to facilitate the identification of the genes underlying a very large fraction of all Mendelian disorders; see http://mendelian.org.
Copyright © 2012 Wiley Periodicals, Inc.

Entities:  

Mesh:

Year:  2012        PMID: 22628075      PMCID: PMC3702263          DOI: 10.1002/ajmg.a.35470

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  14 in total

1.  A de novo paradigm for mental retardation.

Authors:  Lisenka E L M Vissers; Joep de Ligt; Christian Gilissen; Irene Janssen; Marloes Steehouwer; Petra de Vries; Bart van Lier; Peer Arts; Nienke Wieskamp; Marisol del Rosario; Bregje W M van Bon; Alexander Hoischen; Bert B A de Vries; Han G Brunner; Joris A Veltman
Journal:  Nat Genet       Date:  2010-11-14       Impact factor: 38.330

2.  Exome sequencing makes medical genomics a reality.

Authors:  Leslie G Biesecker
Journal:  Nat Genet       Date:  2010-01       Impact factor: 38.330

3.  Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.

Authors:  James R Lupski; Jeffrey G Reid; Claudia Gonzaga-Jauregui; David Rio Deiros; David C Y Chen; Lynne Nazareth; Matthew Bainbridge; Huyen Dinh; Chyn Jing; David A Wheeler; Amy L McGuire; Feng Zhang; Pawel Stankiewicz; John J Halperin; Chengyong Yang; Curtis Gehman; Danwei Guo; Rola K Irikat; Warren Tom; Nick J Fantin; Donna M Muzny; Richard A Gibbs
Journal:  N Engl J Med       Date:  2010-03-10       Impact factor: 91.245

4.  Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10.

Authors:  Keith A Choate; Yin Lu; Jing Zhou; Murim Choi; Peter M Elias; Anita Farhi; Carol Nelson-Williams; Debra Crumrine; Mary L Williams; Amy J Nopper; Alanna Bree; Leonard M Milstone; Richard P Lifton
Journal:  Science       Date:  2010-08-26       Impact factor: 47.728

5.  K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension.

Authors:  Murim Choi; Ute I Scholl; Peng Yue; Peyman Björklund; Bixiao Zhao; Carol Nelson-Williams; Weizhen Ji; Yoonsang Cho; Aniruddh Patel; Clara J Men; Elias Lolis; Max V Wisgerhof; David S Geller; Shrikant Mane; Per Hellman; Gunnar Westin; Göran Åkerström; Wenhui Wang; Tobias Carling; Richard P Lifton
Journal:  Science       Date:  2011-02-11       Impact factor: 47.728

6.  Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene.

Authors:  Nara L M Sobreira; Elizabeth T Cirulli; Dimitrios Avramopoulos; Elizabeth Wohler; Gretchen L Oswald; Eric L Stevens; Dongliang Ge; Kevin V Shianna; Jason P Smith; Jessica M Maia; Curtis E Gumbs; Jonathan Pevsner; George Thomas; David Valle; Julie E Hoover-Fong; David B Goldstein
Journal:  PLoS Genet       Date:  2010-06-17       Impact factor: 5.917

7.  Genetic diagnosis by whole exome capture and massively parallel DNA sequencing.

Authors:  Murim Choi; Ute I Scholl; Weizhen Ji; Tiewen Liu; Irina R Tikhonova; Paul Zumbo; Ahmet Nayir; Ayşin Bakkaloğlu; Seza Ozen; Sami Sanjad; Carol Nelson-Williams; Anita Farhi; Shrikant Mane; Richard P Lifton
Journal:  Proc Natl Acad Sci U S A       Date:  2009-10-27       Impact factor: 11.205

Review 8.  Unlocking Mendelian disease using exome sequencing.

Authors:  Christian Gilissen; Alexander Hoischen; Han G Brunner; Joris A Veltman
Journal:  Genome Biol       Date:  2011-09-14       Impact factor: 13.583

9.  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

10.  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

View more
  64 in total

Review 1.  Massively parallel sequencing: the new frontier of hematologic genomics.

Authors:  Jill M Johnsen; Deborah A Nickerson; Alex P Reiner
Journal:  Blood       Date:  2013-09-10       Impact factor: 22.113

2.  Whole-exome sequencing of 2,000 Danish individuals and the role of rare coding variants in type 2 diabetes.

Authors:  Kirk E Lohmueller; Thomas Sparsø; Qibin Li; Ehm Andersson; Thorfinn Korneliussen; Anders Albrechtsen; Karina Banasik; Niels Grarup; Ingileif Hallgrimsdottir; Kristoffer Kiil; Tuomas O Kilpeläinen; Nikolaj T Krarup; Tune H Pers; Gaston Sanchez; Youna Hu; Michael Degiorgio; Torben Jørgensen; Annelli Sandbæk; Torsten Lauritzen; Søren Brunak; Karsten Kristiansen; Yingrui Li; Torben Hansen; Jun Wang; Rasmus Nielsen; Oluf Pedersen
Journal:  Am J Hum Genet       Date:  2013-11-27       Impact factor: 11.025

Review 3.  The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.

Authors:  Jessica X Chong; Kati J Buckingham; Shalini N Jhangiani; Corinne Boehm; Nara Sobreira; Joshua D Smith; Tanya M Harrell; Margaret J McMillin; Wojciech Wiszniewski; Tomasz Gambin; Zeynep H Coban Akdemir; Kimberly Doheny; Alan F Scott; Dimitri Avramopoulos; Aravinda Chakravarti; Julie Hoover-Fong; Debra Mathews; P Dane Witmer; Hua Ling; Kurt Hetrick; Lee Watkins; Karynne E Patterson; Frederic Reinier; Elizabeth Blue; Donna Muzny; Martin Kircher; Kaya Bilguvar; Francesc López-Giráldez; V Reid Sutton; Holly K Tabor; Suzanne M Leal; Murat Gunel; Shrikant Mane; Richard A Gibbs; Eric Boerwinkle; Ada Hamosh; Jay Shendure; James R Lupski; Richard P Lifton; David Valle; Deborah A Nickerson; Michael J Bamshad
Journal:  Am J Hum Genet       Date:  2015-07-09       Impact factor: 11.025

Review 4.  Drosophila and experimental neurology in the post-genomic era.

Authors:  Joshua M Shulman
Journal:  Exp Neurol       Date:  2015-03-24       Impact factor: 5.330

5.  Applying deep DNA sequencing to common, complex pediatric traits.

Authors:  John M Dagle; Jeffrey C Murray
Journal:  Pediatrics       Date:  2012-11-19       Impact factor: 7.124

6.  Attitudes of non-African American focus group participants toward return of results from exome and whole genome sequencing.

Authors:  Joon-Ho Yu; Julia Crouch; Seema M Jamal; Michael J Bamshad; Holly K Tabor
Journal:  Am J Med Genet A       Date:  2014-05-20       Impact factor: 2.802

7.  Fruit flies in biomedical research.

Authors:  Michael F Wangler; Shinya Yamamoto; Hugo J Bellen
Journal:  Genetics       Date:  2015-01-26       Impact factor: 4.562

8.  Practices and policies of clinical exome sequencing providers: analysis and implications.

Authors:  Seema M Jamal; Joon-Ho Yu; Jessica X Chong; Karin M Dent; Jessie H Conta; Holly K Tabor; Michael J Bamshad
Journal:  Am J Med Genet A       Date:  2013-05       Impact factor: 2.802

9.  Attitudes of African Americans toward return of results from exome and whole genome sequencing.

Authors:  Joon-Ho Yu; Julia Crouch; Seema M Jamal; Holly K Tabor; Michael J Bamshad
Journal:  Am J Med Genet A       Date:  2013-05       Impact factor: 2.802

Review 10.  DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders.

Authors:  Ganesh J Swaminathan; Eugene Bragin; Eleni A Chatzimichali; Manuel Corpas; A Paul Bevan; Caroline F Wright; Nigel P Carter; Matthew E Hurles; Helen V Firth
Journal:  Hum Mol Genet       Date:  2012-09-08       Impact factor: 6.150

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.