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Medrxiv : the Preprint Server for Health Sciences
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April 22, 2024
Defining and Reducing Variant Classification Disparities
Moez Dawood, Shawn Fayer, Sriram Pendyala, et al.
Genome Medicine
|
December 4, 2024
Using multiplexed functional data to reduce variant classification inequities in underrepresented populations
Moez Dawood, Shawn Fayer, Sriram Pendyala, et al.
Circulation. Cardiovascular Genetics
|
August 12, 2017
Novel Genetic Triggers and Genotype-Phenotype Correlations in Patients With Left Ventricular Noncompaction
Karol Miszalski-Jamka, John L Jefferies, Wojciech Mazur, et al.
Genome Medicine
|
March 29, 2022
Whole-genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program
Eric Venner, Donna Muzny, Joshua D Smith, et al.
NPJ Genomic Medicine
|
April 9, 2022
Best practices for the interpretation and reporting of clinical whole genome sequencing
Christina A Austin-Tse, Vaidehi Jobanputra, Denise L Perry, et al.
Mayo Clinic Proceedings
|
November 6, 2018
The Return of Actionable Variants Empirical (RAVE) Study, a Mayo Clinic Genomic Medicine Implementation Study: Design and Initial Results
Iftikhar J Kullo, Janet Olson, Xiao Fan, et al.
Journal of the American Medical Informatics Association : JAMIA
|
June 4, 2018
Empowering genomic medicine by establishing critical sequencing result data flows: the eMERGE example
Samuel Aronson, Lawrence Babb, Darren Ames, et al.
Journal of Biomedical Informatics
|
April 30, 2021
Genomic considerations for FHIR®; eMERGE implementation lessons
Mullai Murugan, Lawrence J Babb, Casey Overby Taylor, et al.
BMC Research Notes
|
March 3, 2024
Genetic sex validation for sample tracking in next-generation sequencing clinical testing
Jianhong Hu, Viktoriya Korchina, Hana Zouk, et al.
Research Square
|
October 4, 2023
Genetic Sex Validation for Sample Tracking in Clinical Testing
Jianhong Hu, Viktoriya Korchina, Hana Zouk, et al.
Page
of 5
Search research articles
Search
Showing results (21-30 of 41) with videos related to
Sort By:
Page
of 5
Medrxiv : the Preprint Server for Health Sciences
|
April 22, 2024
Defining and Reducing Variant Classification Disparities
Moez Dawood, Shawn Fayer, Sriram Pendyala, et al.
Genome Medicine
|
December 4, 2024
Using multiplexed functional data to reduce variant classification inequities in underrepresented populations
Moez Dawood, Shawn Fayer, Sriram Pendyala, et al.
Circulation. Cardiovascular Genetics
|
August 12, 2017
Novel Genetic Triggers and Genotype-Phenotype Correlations in Patients With Left Ventricular Noncompaction
Karol Miszalski-Jamka, John L Jefferies, Wojciech Mazur, et al.
Genome Medicine
|
March 29, 2022
Whole-genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program
Eric Venner, Donna Muzny, Joshua D Smith, et al.
NPJ Genomic Medicine
|
April 9, 2022
Best practices for the interpretation and reporting of clinical whole genome sequencing
Christina A Austin-Tse, Vaidehi Jobanputra, Denise L Perry, et al.
Mayo Clinic Proceedings
|
November 6, 2018
The Return of Actionable Variants Empirical (RAVE) Study, a Mayo Clinic Genomic Medicine Implementation Study: Design and Initial Results
Iftikhar J Kullo, Janet Olson, Xiao Fan, et al.
Journal of the American Medical Informatics Association : JAMIA
|
June 4, 2018
Empowering genomic medicine by establishing critical sequencing result data flows: the eMERGE example
Samuel Aronson, Lawrence Babb, Darren Ames, et al.
Journal of Biomedical Informatics
|
April 30, 2021
Genomic considerations for FHIR®; eMERGE implementation lessons
Mullai Murugan, Lawrence J Babb, Casey Overby Taylor, et al.
BMC Research Notes
|
March 3, 2024
Genetic sex validation for sample tracking in next-generation sequencing clinical testing
Jianhong Hu, Viktoriya Korchina, Hana Zouk, et al.
Research Square
|
October 4, 2023
Genetic Sex Validation for Sample Tracking in Clinical Testing
Jianhong Hu, Viktoriya Korchina, Hana Zouk, et al.
Page
of 5