GenomeConnect: Matchmaking Between Patients, Clinical Laboratories, and Researchers to Improve Genomic Knowledge-Reference-Cited by-同舟云学术

GenomeConnect: Matchmaking Between Patients, Clinical Laboratories, and Researchers to Improve Genomic Knowledge

Published:2015-08-06 Issue:10 Volume:36 Page:974-978
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Kirkpatrick Brianne E.¹,Riggs Erin Rooney¹,Azzariti Danielle R.²,Miller Vanessa Rangel³,Ledbetter David H.¹,Miller David T.⁴⁵,Rehm Heidi²⁶⁷⁸,Martin Christa Lese¹,Faucett W. Andrew¹,

Affiliation:

1. Geisinger Health System; Danville Pennsylvania

2. Laboratory for Molecular Medicine; Partners Personalized Medicine; Boston Massachusetts

3. PatientCrossroads; San Mateo California

4. Division of Genetics and Genomics; Boston Children's Hospital; Boston Massachusetts

5. Claritas Genomics; Cambridge Massachusetts

6. The Broad Institute of Harvard and MIT; Cambridge Massachusetts

7. Harvard Medical School; Boston Massachusetts

8. Department of Pathology; Brigham & Women's Hospital; Boston Massachusetts

Funder

NHGRI; NICHD; NCI

Intramural Research Program of the NIH, National Library of Medicine

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22838/fullpdf

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4. ClinVar: public archive of relationships among sequence variation and human phenotype;Landrum;Nucleic Acids Res,2014

5. The shifting model in clinical diagnostics: how next-generation sequencing and families are altering the way rare diseases are discovered, studied, and treated;Might;Genet Med,2014

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