Literature DB >> 27535530

Human genomics: A deep dive into genetic variation.

Jay Shendure1.   

Abstract

Entities:  

Mesh:

Year:  2016        PMID: 27535530     DOI: 10.1038/536277a

Source DB:  PubMed          Journal:  Nature        ISSN: 0028-0836            Impact factor:   49.962


× No keyword cloud information.
  9 in total

1.  Next-generation DNA sequencing.

Authors:  Jay Shendure; Hanlee Ji
Journal:  Nat Biotechnol       Date:  2008-10       Impact factor: 54.908

2.  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

3.  Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans.

Authors: 
Journal:  Science       Date:  2015-05-07       Impact factor: 47.728

4.  A global reference for human genetic variation.

Authors:  Adam Auton; Lisa D Brooks; Richard M Durbin; Erik P Garrison; Hyun Min Kang; Jan O Korbel; Jonathan L Marchini; Shane McCarthy; Gil A McVean; Gonçalo R Abecasis
Journal:  Nature       Date:  2015-10-01       Impact factor: 49.962

5.  Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

Authors:  Roddy Walsh; Kate L Thomson; James S Ware; Birgit H Funke; Jessica Woodley; Karen J McGuire; Francesco Mazzarotto; Edward Blair; Anneke Seller; Jenny C Taylor; Eric V Minikel; Daniel G MacArthur; Martin Farrall; Stuart A Cook; Hugh Watkins
Journal:  Genet Med       Date:  2016-08-17       Impact factor: 8.822

6.  Analysis of protein-coding genetic variation in 60,706 humans.

Authors:  Monkol Lek; Konrad J Karczewski; Eric V Minikel; Kaitlin E Samocha; Eric Banks; Timothy Fennell; Anne H O'Donnell-Luria; James S Ware; Andrew J Hill; Beryl B Cummings; Taru Tukiainen; Daniel P Birnbaum; Jack A Kosmicki; Laramie E Duncan; Karol Estrada; Fengmei Zhao; James Zou; Emma Pierce-Hoffman; Joanne Berghout; David N Cooper; Nicole Deflaux; Mark DePristo; Ron Do; Jason Flannick; Menachem Fromer; Laura Gauthier; Jackie Goldstein; Namrata Gupta; Daniel Howrigan; Adam Kiezun; Mitja I Kurki; Ami Levy Moonshine; Pradeep Natarajan; Lorena Orozco; Gina M Peloso; Ryan Poplin; Manuel A Rivas; Valentin Ruano-Rubio; Samuel A Rose; Douglas M Ruderfer; Khalid Shakir; Peter D Stenson; Christine Stevens; Brett P Thomas; Grace Tiao; Maria T Tusie-Luna; Ben Weisburd; Hong-Hee Won; Dongmei Yu; David M Altshuler; Diego Ardissino; Michael Boehnke; John Danesh; Stacey Donnelly; Roberto Elosua; Jose C Florez; Stacey B Gabriel; Gad Getz; Stephen J Glatt; Christina M Hultman; Sekar Kathiresan; Markku Laakso; Steven McCarroll; Mark I McCarthy; Dermot McGovern; Ruth McPherson; Benjamin M Neale; Aarno Palotie; Shaun M Purcell; Danish Saleheen; Jeremiah M Scharf; Pamela Sklar; Patrick F Sullivan; Jaakko Tuomilehto; Ming T Tsuang; Hugh C Watkins; James G Wilson; Mark J Daly; Daniel G MacArthur
Journal:  Nature       Date:  2016-08-18       Impact factor: 49.962

7.  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

8.  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

9.  Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants.

Authors:  Wenqing Fu; Timothy D O'Connor; Goo Jun; Hyun Min Kang; Goncalo Abecasis; Suzanne M Leal; Stacey Gabriel; Mark J Rieder; David Altshuler; Jay Shendure; Deborah A Nickerson; Michael J Bamshad; Joshua M Akey
Journal:  Nature       Date:  2012-11-28       Impact factor: 49.962

  9 in total
  5 in total

1.  Effects of allelic variations in the human myxovirus resistance protein A on its antiviral activity.

Authors:  Laura Graf; Alexej Dick; Franziska Sendker; Emanuel Barth; Manja Marz; Oliver Daumke; Georg Kochs
Journal:  J Biol Chem       Date:  2018-01-12       Impact factor: 5.157

2.  Evidence for penetrance in patients without a family history of disease: a systematic review.

Authors:  Heather Turner; Leigh Jackson
Journal:  Eur J Hum Genet       Date:  2020-01-14       Impact factor: 4.246

Review 3.  New insights into the generation and role of de novo mutations in health and disease.

Authors:  Rocio Acuna-Hidalgo; Joris A Veltman; Alexander Hoischen
Journal:  Genome Biol       Date:  2016-11-28       Impact factor: 13.583

Review 4.  Dilated cardiomyopathy.

Authors:  Heinz-Peter Schultheiss; DeLisa Fairweather; Alida L P Caforio; Felicitas Escher; Ray E Hershberger; Steven E Lipshultz; Peter P Liu; Akira Matsumori; Andrea Mazzanti; John McMurray; Silvia G Priori
Journal:  Nat Rev Dis Primers       Date:  2019-05-09       Impact factor: 65.038

5.  A Novel STAT3 Gene Mutation Related Hyper-IgE Syndrome Misdiagnosed as Hidradenitis Suppurativa.

Authors:  Pragya Shrestha; Geetika Sabharwal; Gisoo Ghaffari
Journal:  Case Reports Immunol       Date:  2018-08-13
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.