Literature DB >> 26220576

Data sharing in the undiagnosed diseases network.

Catherine A Brownstein1, Ingrid A Holm1, Rachel Ramoni2, David B Goldstein3.   

Abstract

The Undiagnosed Diseases Network (UDN) builds on the successes of the Undiagnosed Diseases Program at the National Institutes of Health (NIH UDP). Through support from the NIH Common Fund, a coordinating center, six additional clinical sites, and two sequencing cores comprise the UDN. The objectives of the UDN are to: (1) improve the level of diagnosis and care for patients with undiagnosed diseases through the development of common protocols designed by an enlarged community of investigators across the network; (2) facilitate research into the etiology of undiagnosed diseases, by collecting and sharing standardized, high-quality clinical and laboratory data including genotyping, phenotyping, and environmental exposure data; and (3) create an integrated and collaborative research community across multiple clinical sites, and among laboratory and clinical investigators, to investigate the pathophysiology of these rare diseases and to identify options for patient management. Broad-based data sharing is at the core of achieving these objectives, and the UDN is establishing the policies and governance structure to support broad data sharing.
© 2015 WILEY PERIODICALS, INC.

Entities:  

Keywords:  Matchmaker Exchange; big data; genetics; genomics; personalized medicine; precision medicine

Mesh:

Year:  2015        PMID: 26220576      PMCID: PMC4706173          DOI: 10.1002/humu.22840

Source DB:  PubMed          Journal:  Hum Mutat        ISSN: 1059-7794            Impact factor:   4.878


  4 in total

1.  Genic intolerance to functional variation and the interpretation of personal genomes.

Authors:  Slavé Petrovski; Quanli Wang; Erin L Heinzen; Andrew S Allen; David B Goldstein
Journal:  PLoS Genet       Date:  2013-08-22       Impact factor: 5.917

2.  Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.

Authors:  Xiaolin Zhu; Slavé Petrovski; Pingxing Xie; Elizabeth K Ruzzo; Yi-Fan Lu; K Melodi McSweeney; Bruria Ben-Zeev; Andreea Nissenkorn; Yair Anikster; Danit Oz-Levi; Ryan S Dhindsa; Yuki Hitomi; Kelly Schoch; Rebecca C Spillmann; Gali Heimer; Dina Marek-Yagel; Michal Tzadok; Yujun Han; Gordon Worley; Jennifer Goldstein; Yong-Hui Jiang; Doron Lancet; Elon Pras; Vandana Shashi; Duncan McHale; Anna C Need; David B Goldstein
Journal:  Genet Med       Date:  2015-01-15       Impact factor: 8.822

3.  Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.

Authors:  Gregory M Enns; Vandana Shashi; Matthew Bainbridge; Michael J Gambello; Farah R Zahir; Thomas Bast; Rebecca Crimian; Kelly Schoch; Julia Platt; Rachel Cox; Jonathan A Bernstein; Mena Scavina; Rhonda S Walter; Audrey Bibb; Melanie Jones; Madhuri Hegde; Brett H Graham; Anna C Need; Angelica Oviedo; Christian P Schaaf; Sean Boyle; Atul J Butte; Rui Chen; Rong Chen; Michael J Clark; Rajini Haraksingh; Tina M Cowan; Ping He; Sylvie Langlois; Huda Y Zoghbi; Michael Snyder; Richard A Gibbs; Hudson H Freeze; David B Goldstein
Journal:  Genet Med       Date:  2014-03-20       Impact factor: 8.822

4.  An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Authors:  Catherine A Brownstein; Alan H Beggs; Nils Homer; Barry Merriman; Timothy W Yu; Katherine C Flannery; Elizabeth T DeChene; Meghan C Towne; Sarah K Savage; Emily N Price; Ingrid A Holm; Lovelace J Luquette; Elaine Lyon; Joseph Majzoub; Peter Neupert; David McCallie; Peter Szolovits; Huntington F Willard; Nancy J Mendelsohn; Renee Temme; Richard S Finkel; Sabrina W Yum; Livija Medne; Shamil R Sunyaev; Ivan Adzhubey; Christopher A Cassa; Paul I W de Bakker; Hatice Duzkale; Piotr Dworzyński; William Fairbrother; Laurent Francioli; Birgit H Funke; Monica A Giovanni; Robert E Handsaker; Kasper Lage; Matthew S Lebo; Monkol Lek; Ignaty Leshchiner; Daniel G MacArthur; Heather M McLaughlin; Michael F Murray; Tune H Pers; Paz P Polak; Soumya Raychaudhuri; Heidi L Rehm; Rachel Soemedi; Nathan O Stitziel; Sara Vestecka; Jochen Supper; Claudia Gugenmus; Bernward Klocke; Alexander Hahn; Max Schubach; Mortiz Menzel; Saskia Biskup; Peter Freisinger; Mario Deng; Martin Braun; Sven Perner; Richard J H Smith; Janeen L Andorf; Jian Huang; Kelli Ryckman; Val C Sheffield; Edwin M Stone; Thomas Bair; E Ann Black-Ziegelbein; Terry A Braun; Benjamin Darbro; Adam P DeLuca; Diana L Kolbe; Todd E Scheetz; Aiden E Shearer; Rama Sompallae; Kai Wang; Alexander G Bassuk; Erik Edens; Katherine Mathews; Steven A Moore; Oleg A Shchelochkov; Pamela Trapane; Aaron Bossler; Colleen A Campbell; Jonathan W Heusel; Anne Kwitek; Tara Maga; Karin Panzer; Thomas Wassink; Douglas Van Daele; Hela Azaiez; Kevin Booth; Nic Meyer; Michael M Segal; Marc S Williams; Gerard Tromp; Peter White; Donald Corsmeier; Sara Fitzgerald-Butt; Gail Herman; Devon Lamb-Thrush; Kim L McBride; David Newsom; Christopher R Pierson; Alexander T Rakowsky; Aleš Maver; Luca Lovrečić; Anja Palandačić; Borut Peterlin; Ali Torkamani; Anna Wedell; Mikael Huss; Andrey Alexeyenko; Jessica M Lindvall; Måns Magnusson; Daniel Nilsson; Henrik Stranneheim; Fulya Taylan; Christian Gilissen; Alexander Hoischen; Bregje van Bon; Helger Yntema; Marcel Nelen; Weidong Zhang; Jason Sager; Lu Zhang; Kathryn Blair; Deniz Kural; Michael Cariaso; Greg G Lennon; Asif Javed; Saloni Agrawal; Pauline C Ng; Komal S Sandhu; Shuba Krishna; Vamsi Veeramachaneni; Ofer Isakov; Eran Halperin; Eitan Friedman; Noam Shomron; Gustavo Glusman; Jared C Roach; Juan Caballero; Hannah C Cox; Denise Mauldin; Seth A Ament; Lee Rowen; Daniel R Richards; F Anthony San Lucas; Manuel L Gonzalez-Garay; C Thomas Caskey; Yu Bai; Ying Huang; Fang Fang; Yan Zhang; Zhengyuan Wang; Jorge Barrera; Juan M Garcia-Lobo; Domingo González-Lamuño; Javier Llorca; Maria C Rodriguez; Ignacio Varela; Martin G Reese; Francisco M De La Vega; Edward Kiruluta; Michele Cargill; Reece K Hart; Jon M Sorenson; Gholson J Lyon; David A Stevenson; Bruce E Bray; Barry M Moore; Karen Eilbeck; Mark Yandell; Hongyu Zhao; Lin Hou; Xiaowei Chen; Xiting Yan; Mengjie Chen; Cong Li; Can Yang; Murat Gunel; Peining Li; Yong Kong; Austin C Alexander; Zayed I Albertyn; Kym M Boycott; Dennis E Bulman; Paul M K Gordon; A Micheil Innes; Bartha M Knoppers; Jacek Majewski; Christian R Marshall; Jillian S Parboosingh; Sarah L Sawyer; Mark E Samuels; Jeremy Schwartzentruber; Isaac S Kohane; David M Margulies
Journal:  Genome Biol       Date:  2014-03-25       Impact factor: 13.583

  4 in total
  13 in total

1.  The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease.

Authors:  Rachel B Ramoni; John J Mulvihill; David R Adams; Patrick Allard; Euan A Ashley; Jonathan A Bernstein; William A Gahl; Rizwan Hamid; Joseph Loscalzo; Alexa T McCray; Vandana Shashi; Cynthia J Tifft; Anastasia L Wise
Journal:  Am J Hum Genet       Date:  2017-02-02       Impact factor: 11.025

2.  The Matchmaker Exchange: a platform for rare disease gene discovery.

Authors:  Anthony A Philippakis; Danielle R Azzariti; Sergi Beltran; Anthony J Brookes; Catherine A Brownstein; Michael Brudno; Han G Brunner; Orion J Buske; Knox Carey; Cassie Doll; Sergiu Dumitriu; Stephanie O M Dyke; Johan T den Dunnen; Helen V Firth; Richard A Gibbs; Marta Girdea; Michael Gonzalez; Melissa A Haendel; Ada Hamosh; Ingrid A Holm; Lijia Huang; Matthew E Hurles; Ben Hutton; Joel B Krier; Andriy Misyura; Christopher J Mungall; Justin Paschall; Benedict Paten; Peter N Robinson; François Schiettecatte; Nara L Sobreira; Ganesh J Swaminathan; Peter E Taschner; Sharon F Terry; Nicole L Washington; Stephan Züchner; Kym M Boycott; Heidi L Rehm
Journal:  Hum Mutat       Date:  2015-10       Impact factor: 4.878

3.  Navigating the Phenotype Frontier: The Monarch Initiative.

Authors:  Julie A McMurry; Sebastian Köhler; Nicole L Washington; James P Balhoff; Charles Borromeo; Matthew Brush; Seth Carbon; Tom Conlin; Nathan Dunn; Mark Engelstad; Erin Foster; Jean-Philippe Gourdine; Julius O B Jacobsen; Daniel Keith; Bryan Laraway; Jeremy Nguyen Xuan; Kent Shefchek; Nicole A Vasilevsky; Zhou Yuan; Suzanna E Lewis; Harry Hochheiser; Tudor Groza; Damian Smedley; Peter N Robinson; Christopher J Mungall; Melissa A Haendel
Journal:  Genetics       Date:  2016-08       Impact factor: 4.562

4.  Data Sharing Advances Rare and Neglected Disease Clinical Research and Treatments.

Authors:  Rachelle J Bienstock
Journal:  ACS Pharmacol Transl Sci       Date:  2019-08-22

5.  De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.

Authors:  Oguz Kanca; Jonathan C Andrews; Pei-Tseng Lee; Chirag Patel; Stephen R Braddock; Anne M Slavotinek; Julie S Cohen; Cynthia S Gubbels; Kimberly A Aldinger; Judy Williams; Maanasa Indaram; Ali Fatemi; Timothy W Yu; Pankaj B Agrawal; Gilbert Vezina; Cas Simons; Joanna Crawford; C Christopher Lau; Wendy K Chung; Thomas C Markello; William B Dobyns; David R Adams; William A Gahl; Michael F Wangler; Shinya Yamamoto; Hugo J Bellen; May Christine V Malicdan
Journal:  Am J Hum Genet       Date:  2019-07-18       Impact factor: 11.025

6.  Seven years since the launch of the Matchmaker Exchange: The evolution of genomic matchmaking.

Authors:  Kym M Boycott; Danielle R Azzariti; Ada Hamosh; Heidi L Rehm
Journal:  Hum Mutat       Date:  2022-05-10       Impact factor: 4.700

7.  ModelMatcher: A scientist-centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease research.

Authors:  J Michael Harnish; Lucian Li; Sanja Rogic; Guillaume Poirier-Morency; Seon-Young Kim; Kym M Boycott; Michael F Wangler; Hugo J Bellen; Philip Hieter; Paul Pavlidis; Zhandong Liu; Shinya Yamamoto
Journal:  Hum Mutat       Date:  2022-03-24       Impact factor: 4.700

8.  International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.

Authors:  Kym M Boycott; Ana Rath; Jessica X Chong; Taila Hartley; Fowzan S Alkuraya; Gareth Baynam; Anthony J Brookes; Michael Brudno; Angel Carracedo; Johan T den Dunnen; Stephanie O M Dyke; Xavier Estivill; Jack Goldblatt; Catherine Gonthier; Stephen C Groft; Ivo Gut; Ada Hamosh; Philip Hieter; Sophie Höhn; Matthew E Hurles; Petra Kaufmann; Bartha M Knoppers; Jeffrey P Krischer; Milan Macek; Gert Matthijs; Annie Olry; Samantha Parker; Justin Paschall; Anthony A Philippakis; Heidi L Rehm; Peter N Robinson; Pak-Chung Sham; Rumen Stefanov; Domenica Taruscio; Divya Unni; Megan R Vanstone; Feng Zhang; Han Brunner; Michael J Bamshad; Hanns Lochmüller
Journal:  Am J Hum Genet       Date:  2017-05-04       Impact factor: 11.025

9.  User-Friendly Data-Sharing Practices for Fostering Collaboration within a Research Network: Roles of a Vanguard Center for a Community-Based Study.

Authors:  Jae Eun Lee; Jung Hye Sung; M Edwina Barnett; Keith Norris
Journal:  Int J Environ Res Public Health       Date:  2015-12-22       Impact factor: 3.390

Review 10.  Clinical Interpretation of Genomic Variations.

Authors:  Müge Sayitoğlu
Journal:  Turk J Haematol       Date:  2016-08-08       Impact factor: 1.831

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