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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 14, 2019
A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients
Holly LaDuca, Eric C Polley, Amal Yussuf, et al.
Nucleic Acids Research
|
March 15, 2019
Splice-Break: exploiting an RNA-seq splice junction algorithm to discover mitochondrial DNA deletion breakpoints and analyses of psychiatric disorders
Brooke E Hjelm, Brandi Rollins, Ling Morgan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 31, 2014
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions
Kelly D Farwell, Layla Shahmirzadi, Dima El-Khechen, et al.
Human Mutation
|
December 12, 2023
Specifications of the ACMG/AMP Variant Classification Guidelines for Germline <i>DICER1</i> Variant Curation
Jessica N Hatton, Megan N Frone, Hannah C Cox, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 5, 2016
A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories
Julianne M O'Daniel, Heather M McLaughlin, Laura M Amendola, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 3, 2023
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change
Heidi L Rehm, Joseph T Alaimo, Swaroop Aradhya, et al.
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Search research articles
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Showing results (31-40 of 36) with videos related to
Sort By:
Page
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You have reached the last page of results.
This site can display upto 36 results.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 14, 2019
A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients
Holly LaDuca, Eric C Polley, Amal Yussuf, et al.
Nucleic Acids Research
|
March 15, 2019
Splice-Break: exploiting an RNA-seq splice junction algorithm to discover mitochondrial DNA deletion breakpoints and analyses of psychiatric disorders
Brooke E Hjelm, Brandi Rollins, Ling Morgan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 31, 2014
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions
Kelly D Farwell, Layla Shahmirzadi, Dima El-Khechen, et al.
Human Mutation
|
December 12, 2023
Specifications of the ACMG/AMP Variant Classification Guidelines for Germline <i>DICER1</i> Variant Curation
Jessica N Hatton, Megan N Frone, Hannah C Cox, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 5, 2016
A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories
Julianne M O'Daniel, Heather M McLaughlin, Laura M Amendola, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 3, 2023
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change
Heidi L Rehm, Joseph T Alaimo, Swaroop Aradhya, et al.
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of 4