Literature DB >> 23463607

Towards a Universal Clinical Genomics Database: the 2012 International Standards for Cytogenomic Arrays Consortium Meeting.

Erin Rooney Riggs1, Karen E Wain, Darlene Riethmaier, Melissa Savage, Bethanny Smith-Packard, Erin B Kaminsky, Heidi L Rehm, Christa Lese Martin, David H Ledbetter, W Andrew Faucett.   

Abstract

The 2012 International Standards for Cytogenomic Arrays (ISCA) Consortium Meeting, "Towards a Universal Clinical Genomic Database," was held in Bethesda, Maryland, May 21-22, 2012, and was attended by over 200 individuals from around the world representing clinical genetic testing laboratories, clinicians, academia, industry, research, and regulatory agencies. The scientific program centered on expanding the current focus of the ISCA Consortium to include the collection and curation of both structural and sequence-level variation into a unified clinical genomics database, available to the public through resources such as the National Center for Biotechnology Information's ClinVar database. Here, we provide an overview of the conference, with summaries of the topics presented for discussion by over 25 different speakers. Presentations are available online at www.iscaconsortium.org.
© 2013 Wiley Periodicals, Inc.

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Year:  2013        PMID： 23463607      PMCID： PMC3663929          DOI： 10.1002/humu.22306

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


  4 in total

Review 1.  Towards an evidence-based process for the clinical interpretation of copy number variation.

Authors:  E R Riggs; D M Church; K Hanson; V L Horner; E B Kaminsky; R M Kuhn; K E Wain; E S Williams; S Aradhya; H M Kearney; D H Ledbetter; S T South; E C Thorland; C L Martin
Journal:  Clin Genet       Date:  2011-12-13       Impact factor: 4.438

2.  Chromosomal microarray versus karyotyping for prenatal diagnosis.

Authors:  Ronald J Wapner; Christa Lese Martin; Brynn Levy; Blake C Ballif; Christine M Eng; Julia M Zachary; Melissa Savage; Lawrence D Platt; Daniel Saltzman; William A Grobman; Susan Klugman; Thomas Scholl; Joe Leigh Simpson; Kimberly McCall; Vimla S Aggarwal; Brian Bunke; Odelia Nahum; Ankita Patel; Allen N Lamb; Elizabeth A Thom; Arthur L Beaudet; David H Ledbetter; Lisa G Shaffer; Laird Jackson
Journal:  N Engl J Med       Date:  2012-12-06       Impact factor: 91.245

3.  A copy number variation morbidity map of developmental delay.

Authors:  Gregory M Cooper; Bradley P Coe; Santhosh Girirajan; Jill A Rosenfeld; Tiffany H Vu; Carl Baker; Charles Williams; Heather Stalker; Rizwan Hamid; Vickie Hannig; Hoda Abdel-Hamid; Patricia Bader; Elizabeth McCracken; Dmitriy Niyazov; Kathleen Leppig; Heidi Thiese; Marybeth Hummel; Nora Alexander; Jerome Gorski; Jennifer Kussmann; Vandana Shashi; Krys Johnson; Catherine Rehder; Blake C Ballif; Lisa G Shaffer; Evan E Eichler
Journal:  Nat Genet       Date:  2011-08-14       Impact factor: 38.330

4.  Modernizing reference genome assemblies.

Authors:  Deanna M Church; Valerie A Schneider; Tina Graves; Katherine Auger; Fiona Cunningham; Nathan Bouk; Hsiu-Chuan Chen; Richa Agarwala; William M McLaren; Graham R S Ritchie; Derek Albracht; Milinn Kremitzki; Susan Rock; Holland Kotkiewicz; Colin Kremitzki; Aye Wollam; Lee Trani; Lucinda Fulton; Robert Fulton; Lucy Matthews; Siobhan Whitehead; Will Chow; James Torrance; Matthew Dunn; Glenn Harden; Glen Threadgold; Jonathan Wood; Joanna Collins; Paul Heath; Guy Griffiths; Sarah Pelan; Darren Grafham; Evan E Eichler; George Weinstock; Elaine R Mardis; Richard K Wilson; Kerstin Howe; Paul Flicek; Tim Hubbard
Journal:  PLoS Biol       Date:  2011-07-05       Impact factor: 8.029
  4 in total
  18 in total

1.  GenomeConnect: matchmaking between patients, clinical laboratories, and researchers to improve genomic knowledge.

Authors:  Brianne E Kirkpatrick; Erin Rooney Riggs; Danielle R Azzariti; Vanessa Rangel Miller; David H Ledbetter; David T Miller; Heidi Rehm; Christa Lese Martin; W Andrew Faucett
Journal:  Hum Mutat       Date:  2015-08-06       Impact factor: 4.878

2.  Clinical interpretation and implications of whole-genome sequencing.

Authors:  Frederick E Dewey; Megan E Grove; Cuiping Pan; Benjamin A Goldstein; Jonathan A Bernstein; Hassan Chaib; Jason D Merker; Rachel L Goldfeder; Gregory M Enns; Sean P David; Neda Pakdaman; Kelly E Ormond; Colleen Caleshu; Kerry Kingham; Teri E Klein; Michelle Whirl-Carrillo; Kenneth Sakamoto; Matthew T Wheeler; Atul J Butte; James M Ford; Linda Boxer; John P A Ioannidis; Alan C Yeung; Russ B Altman; Themistocles L Assimes; Michael Snyder; Euan A Ashley; Thomas Quertermous
Journal:  JAMA       Date:  2014-03-12       Impact factor: 56.272

Review 3.  Deep brain stimulation for dystonia: a novel perspective on the value of genetic testing.

Authors:  H A Jinnah; Ron Alterman; Christine Klein; Joachim K Krauss; Elena Moro; Marie Vidailhet; Robert Raike
Journal:  J Neural Transm (Vienna)       Date:  2017-02-03       Impact factor: 3.575

4.  Computational Pathology: A Path Ahead.

Authors:  David N Louis; Michael Feldman; Alexis B Carter; Anand S Dighe; John D Pfeifer; Lynn Bry; Jonas S Almeida; Joel Saltz; Jonathan Braun; John E Tomaszewski; John R Gilbertson; John H Sinard; Georg K Gerber; Stephen J Galli; Jeffrey A Golden; Michael J Becich
Journal:  Arch Pathol Lab Med       Date:  2015-06-22       Impact factor: 5.534

5.  Clinical decision support for whole genome sequence information leveraging a service-oriented architecture: a prototype.

Authors:  Brandon M Welch; Salvador Rodriguez-Loya; Karen Eilbeck; Kensaku Kawamoto
Journal:  AMIA Annu Symp Proc       Date:  2014-11-14

6.  A new era in the interpretation of human genomic variation.

Authors:  Heidi L Rehm
Journal:  Genet Med       Date:  2017-07-13       Impact factor: 8.822

7.  A comprehensive assay for CFTR mutational analysis using next-generation sequencing.

Authors:  Ahmad N Abou Tayoun; Christopher D Tunkey; Trevor J Pugh; Tristen Ross; Minita Shah; Clarence C Lee; Timothy T Harkins; Wendy A Wells; Laura J Tafe; Christopher I Amos; Gregory J Tsongalis
Journal:  Clin Chem       Date:  2013-06-17       Impact factor: 8.327

8.  Prioritizing disease-linked variants, genes, and pathways with an interactive whole-genome analysis pipeline.

Authors:  In-Hee Lee; Kyungjoon Lee; Michael Hsing; Yongjoon Choe; Jin-Ho Park; Shu Hee Kim; Justin M Bohn; Matthew B Neu; Kyu-Baek Hwang; Robert C Green; Isaac S Kohane; Sek Won Kong
Journal:  Hum Mutat       Date:  2014-03-06       Impact factor: 4.878

9.  Clinical interpretation of CNVs with cross-species phenotype data.

Authors:  Sebastian Köhler; Uwe Schoeneberg; Johanna Christina Czeschik; Sandra C Doelken; Jayne Y Hehir-Kwa; Jonas Ibn-Salem; Christopher J Mungall; Damian Smedley; Melissa A Haendel; Peter N Robinson
Journal:  J Med Genet       Date:  2014-10-03       Impact factor: 6.318

10.  Sequence to Medical Phenotypes: A Framework for Interpretation of Human Whole Genome DNA Sequence Data.

Authors:  Frederick E Dewey; Megan E Grove; James R Priest; Daryl Waggott; Prag Batra; Clint L Miller; Matthew Wheeler; Amin Zia; Cuiping Pan; Konrad J Karzcewski; Christina Miyake; Michelle Whirl-Carrillo; Teri E Klein; Somalee Datta; Russ B Altman; Michael Snyder; Thomas Quertermous; Euan A Ashley
Journal:  PLoS Genet       Date:  2015-10-08       Impact factor: 5.917
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