Clinical validity of expanded carrier screening: Evaluating the gene‐disease relationship in more than 200 conditions-Reference-Cited by-同舟云学术

Clinical validity of expanded carrier screening: Evaluating the gene‐disease relationship in more than 200 conditions

Published:2020-05-21 Issue:8 Volume:41 Page:1365-1371
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Balzotti Marie¹,Meng Linyan²^ORCID,Muzzey Dale¹^ORCID,Johansen Taber Katherine¹^ORCID,Beauchamp Kyle¹³^ORCID,Curation Team Myriad Genetics¹,Curation Team Baylor Genetics²,Mar‐Heyming Rebecca¹⁴,Buckley Bethany¹⁵,Moyer Krista¹^ORCID

Affiliation:

1. Myriad Women's HealthMyriad GeneticsSouth San Francisco California

2. Division of Clinical Genomic InterpretationBaylor GeneticsHouston Texas

3. TempusRedwood City California

4. Ambry GeneticsAliso Viejo California

5. InvitaeSan Francisco California

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24033

Reference25 articles.

1. Committee Opinion No. 690: Carrier Screening in the Age of Genomic Medicine

2. Diagnostic gene sequencing panels: from design to report—a technical standard of the American College of Medical Genetics and Genomics (ACMG)

3. Systematic design and comparison of expanded carrier screening panels

4. A data-driven evaluation of the size and content of expanded carrier screening panels

5. EXAMINING EVIDENCE IN U.S. PAYER COVERAGE POLICIES FOR MULTI-GENE PANELS AND SEQUENCING TESTS

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