Literature DB >> 29691228

The 100 000 Genomes Project: bringing whole genome sequencing to the NHS.

Clare Turnbull1,2, Richard H Scott3,4, Ellen Thomas3,5, Louise Jones3,6, Nirupa Murugaesu3,7, Freya Boardman Pretty3, Dina Halai3, Emma Baple3,8, Clare Craig3, Angela Hamblin3,9, Shirley Henderson3,10, Christine Patch3,5,11, Amanda O'Neill3,12, Katherine Smith3, Antonio Rueda Martin3, Alona Sosinsky3, Ellen M McDonagh3, Razvan Sultana3, Michael Mueller3, Damian Smedley3,13, Adam Toms3, Lisa Dinh3, Tom Fowler3, Mark Bale3,14, Tim Hubbard3,15, Augusto Rendon3,12, Sue Hill10, Mark J Caulfield3,13.   

Abstract

Entities:  

Mesh：

Year:  2018        PMID： 29691228     DOI： 10.1136/bmj.k1687

Source DB:  PubMed          Journal:  BMJ        ISSN： 0959-8138


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  118 in total

1.  Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice.

Authors:  Alistair T Pagnamenta; Pierre Heemeryck; Hilary C Martin; Christophe Bosc; Leticia Peris; Ivy Uszynski; Sylvie Gory-Fauré; Simon Couly; Charu Deshpande; Ata Siddiqui; Alaa A Elmonairy; Sandeep Jayawant; Sarada Murthy; Ian Walker; Lucy Loong; Peter Bauer; Frédérique Vossier; Eric Denarier; Tangui Maurice; Emmanuel L Barbier; Jean-Christophe Deloulme; Jenny C Taylor; Edward M Blair; Annie Andrieux; Marie-Jo Moutin
Journal:  Hum Mol Genet       Date:  2019-10-15       Impact factor: 6.150

2.  Australian Genomics: A Federated Model for Integrating Genomics into Healthcare.

Authors:  Zornitza Stark; Tiffany Boughtwood; Peta Phillips; John Christodoulou; David P Hansen; Jeffrey Braithwaite; Ainsley J Newson; Clara L Gaff; Andrew H Sinclair; Kathryn N North
Journal:  Am J Hum Genet       Date:  2019-07-03       Impact factor: 11.025

3.  Children's rare disease cohorts: an integrative research and clinical genomics initiative.

Authors:  Shira Rockowitz; Nicholas LeCompte; Mary Carmack; Andrew Quitadamo; Lily Wang; Meredith Park; Devon Knight; Emma Sexton; Lacey Smith; Beth Sheidley; Michael Field; Ingrid A Holm; Catherine A Brownstein; Pankaj B Agrawal; Susan Kornetsky; Annapurna Poduri; Scott B Snapper; Alan H Beggs; Timothy W Yu; David A Williams; Piotr Sliz
Journal:  NPJ Genom Med       Date:  2020-07-06       Impact factor: 8.617

4.  Integrating Genomics into Healthcare: A Global Responsibility.

Authors:  Zornitza Stark; Lena Dolman; Teri A Manolio; Brad Ozenberger; Sue L Hill; Mark J Caulfied; Yves Levy; David Glazer; Julia Wilson; Mark Lawler; Tiffany Boughtwood; Jeffrey Braithwaite; Peter Goodhand; Ewan Birney; Kathryn N North
Journal:  Am J Hum Genet       Date:  2019-01-03       Impact factor: 11.025

5.  Global Pharmacogenomics Within Precision Medicine: Challenges and Opportunities.

Authors:  Meghan J Chenoweth; Kathleen M Giacomini; Munir Pirmohamed; Susan L Hill; Ron H N van Schaik; Matthias Schwab; Alan R Shuldiner; Mary V Relling; Rachel F Tyndale
Journal:  Clin Pharmacol Ther       Date:  2019-11-06       Impact factor: 6.875

6.  parSMURF, a high-performance computing tool for the genome-wide detection of pathogenic variants.

Authors:  Alessandro Petrini; Marco Mesiti; Max Schubach; Marco Frasca; Daniel Danis; Matteo Re; Giuliano Grossi; Luca Cappelletti; Tiziana Castrignanò; Peter N Robinson; Giorgio Valentini
Journal:  Gigascience       Date:  2020-05-01       Impact factor: 6.524

7.  Biomedical Research Cohort Membership Disclosure on Social Media.

Authors:  Yongtai Liu; Chao Yan; Zhijun Yin; Zhiyu Wan; Weiyi Xia; Murat Kantarcioglu; Yevgeniy Vorobeychik; Ellen Wright Clayton; Bradley A Malin
Journal:  AMIA Annu Symp Proc       Date:  2020-03-04

Review 8.  Tumour predisposition and cancer syndromes as models to study gene-environment interactions.

Authors:  Michele Carbone; Sarah T Arron; Bruce Beutler; Angela Bononi; Webster Cavenee; James E Cleaver; Carlo M Croce; Alan D'Andrea; William D Foulkes; Giovanni Gaudino; Joanna L Groden; Elizabeth P Henske; Ian D Hickson; Paul M Hwang; Richard D Kolodner; Tak W Mak; David Malkin; Raymond J Monnat; Flavia Novelli; Harvey I Pass; John H Petrini; Laura S Schmidt; Haining Yang
Journal:  Nat Rev Cancer       Date:  2020-05-29       Impact factor: 60.716

Review 9.  Opportunities, resources, and techniques for implementing genomics in clinical care.

Authors:  Teri A Manolio; Robb Rowley; Marc S Williams; Dan Roden; Geoffrey S Ginsburg; Carol Bult; Rex L Chisholm; Patricia A Deverka; Howard L McLeod; George A Mensah; Mary V Relling; Laura Lyman Rodriguez; Cecelia Tamburro; Eric D Green
Journal:  Lancet       Date:  2019-08-05       Impact factor: 79.321

Review 10.  Building evidence and measuring clinical outcomes for genomic medicine.

Authors:  Josh F Peterson; Dan M Roden; Lori A Orlando; Andrea H Ramirez; George A Mensah; Marc S Williams
Journal:  Lancet       Date:  2019-08-05       Impact factor: 79.321
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