Seven years since the launch of the Matchmaker Exchange: The evolution of genomic matchmaking-Reference-Cited by-同舟云学术

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

Published:2022-05-10 Issue: Volume: Page:
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Boycott Kym M.¹^ORCID,Azzariti Danielle R.²^ORCID,Hamosh Ada³^ORCID,Rehm Heidi L.²⁴^ORCID

Affiliation:

1. Children's Hospital of Eastern Ontario Research Institute University of Ottawa Ottawa Ontario Canada

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

3. McKusick‐Nathans Department of Genetic Medicine Johns Hopkins University School of Medicine Baltimore Maryland USA

4. Center for Genomic Medicine, Massachusetts General Hospital Boston Massachusetts USA

Funder

Canadian Institutes of Health Research

National Human Genome Research Institute

Publisher

Hindawi Limited

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24373

Reference53 articles.

1. 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report

2. Japan’s initiative on rare and undiagnosed diseases (IRUD): towards an end to the diagnostic odyssey

3. Mitigating False-Positive Associations in Rare Disease Gene Discovery

4. GeneMatcher Aids in the Identification of a New Malformation Syndrome with Intellectual Disability, Unique Facial Dysmorphisms, and Skeletal and Connective Tissue Abnormalities Caused by De Novo Variants inHNRNPK

5. Mendelian Gene Discovery: Fast and Furious with No End in Sight

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