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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 23, 2017
Systematic design and comparison of expanded carrier screening panels
Kyle A Beauchamp, Dale Muzzey, Kenny K Wong, et al.
Clinical Chemistry
|
May 16, 2018
Validation of an Expanded Carrier Screen that Optimizes Sensitivity via Full-Exon Sequencing and Panel-wide Copy Number Variant Identification
Gregory J Hogan, Valentina S Vysotskaia, Kyle A Beauchamp, et al.
Human Mutation
|
October 13, 2018
Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach
Steven M Harrison, Jill S Dolinksy, Wenjie Chen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 5, 2019
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel
Jun Shen, Andrea M Oza, Ignacio Del Castillo, et al.
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of 2
Search research articles
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Showing results (11-20 of 14) with videos related to
Sort By:
Page
of 2
You have reached the last page of results.
This site can display upto 14 results.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 23, 2017
Systematic design and comparison of expanded carrier screening panels
Kyle A Beauchamp, Dale Muzzey, Kenny K Wong, et al.
Clinical Chemistry
|
May 16, 2018
Validation of an Expanded Carrier Screen that Optimizes Sensitivity via Full-Exon Sequencing and Panel-wide Copy Number Variant Identification
Gregory J Hogan, Valentina S Vysotskaia, Kyle A Beauchamp, et al.
Human Mutation
|
October 13, 2018
Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach
Steven M Harrison, Jill S Dolinksy, Wenjie Chen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 5, 2019
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel
Jun Shen, Andrea M Oza, Ignacio Del Castillo, et al.
Page
of 2