seqr : A web‐based analysis and collaboration tool for rare disease genomics

Author:

Pais Lynn S.12ORCID,Snow Hana1,Weisburd Ben1,Zhang Shifa1,Baxter Samantha M.1,DiTroia Stephanie12,O'Heir Emily12,England Eleina12,Chao Katherine R.1,Lemire Gabrielle12,Osei‐Owusu Ikeoluwa1,VanNoy Grace E.1,Wilson Michael1,Nguyen Kevin1,Arachchi Harindra1,Phu William12,Solomonson Matthew1,Mano Stacy1,O'Leary Melanie1,Lovgren Alysia1,Babb Lawrence1,Austin‐Tse Christina A.13,Rehm Heidi L.13ORCID,MacArthur Daniel G.145ORCID,O'Donnell‐Luria Anne12ORCID

Affiliation:

1. Program in Medical and Population Genetics Broad Institute of MIT and Harvard Cambridge Massachusetts USA

2. Division of Genetics and Genomics, Boston Children's Hospital Harvard Medical School Boston Massachusetts USA

3. Center for Genomic Medicine, Massachusetts General Hospital Harvard Medical School Boston Massachusetts USA

4. Centre for Population Genomics Garvan Institute of Medical Research and UNSW Sydney Sydney Australia

5. Centre for Population Genomics Murdoch Children's Research Institute Melbourne Australia

Publisher

Hindawi Limited

Subject

Genetics (clinical),Genetics

Reference37 articles.

1. 100,000 genomes pilot on rare‐disease diagnosis in health care— Preliminary report;100,000 Genomes Project Pilot, Investigators;The New England Journal of Medicine,2021

2. OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders;Amberger J. S.;Nucleic Acids Research,2015

3. Centers for Mendelian Genomics: A decade of facilitating gene discovery;Baxter S. M.;Genetics in Medicine,2022

4. International cooperation to enable the diagnosis of all rare genetic diseases;Boycott K. M.;American Journal of Human Genetics,2017

5. Mouse Genome Database (MGD) 2019;Bult C. J.;Nucleic Acids Research,2019

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