Screening for Tay‐Sachs disease carriers by full‐exon sequencing with novel variant interpretation outperforms enzyme testing in a pan‐ethnic cohort-Reference-Cited by-同舟云学术

Screening for Tay‐Sachs disease carriers by full‐exon sequencing with novel variant interpretation outperforms enzyme testing in a pan‐ethnic cohort

Published:2019-07-10 Issue:8 Volume:7 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Cecchi Alana C.¹,Vengoechea Elizabeth S.²,Kaseniit Kristjan E.¹,Hardy Melanie W.²^ORCID,Kiger Laura A.¹,Mehta Nikita¹,Haque Imran S.¹,Moyer Krista¹,Page Patricia Z.²,Muzzey Dale¹^ORCID,Grinzaid Karen A.²^ORCID

Affiliation:

1. Myriad Women’s Health South San Francisco California

2. Department of Human Genetics Emory University School of Medicine Atlanta Georgia

Funder

National Tay-Sachs and Allied Diseases Association

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.836

Reference27 articles.

1. Tay-Sachs screening in the Jewish Ashkenazi population: DNA testing is the preferred procedure

2. Systematic design and comparison of expanded carrier screening panels

3. Diagnosis and carrier detection of Tay‐Sachs disease: Direct determination of hexosaminidase A using 4‐methylumbelliferyl derivatives of beta‐N‐acetylglucosamine‐6‐sulfate and beta‐N‐acetylgalactosamine‐6‐sulfate;Ben‐Yoseph Y.;American Journal of Human Genetics,1985

4. THE USE OF CONFIDENCE OR FIDUCIAL LIMITS ILLUSTRATED IN THE CASE OF THE BINOMIAL

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

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