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AMIA ... Annual Symposium Proceedings. AMIA Symposium
|
April 21, 2020
Implementing the VMC Specification to Reduce Ambiguity in Genomic Variant Representation
Michael Watkins, Shawn Rynearson, Alex Henrie, et al.
Peerj
|
October 11, 2013
Integrating precision medicine in the study and clinical treatment of a severely mentally ill person
Jason A O'Rawe, Han Fang, Shawn Rynearson, et al.
Cold Spring Harbor Molecular Case Studies
|
November 15, 2022
Rapid genome sequencing identifies a novel de novo <i>SNAP25</i> variant for neonatal congenital myasthenic syndrome
Hayley M Reynolds, Ting Wen, Andrew Farrell, et al.
Genome Medicine
|
January 14, 2017
ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants
Ronak Y Patel, Neethu Shah, Andrew R Jackson, et al.
Genome Biology
|
May 27, 2016
Taxonomer: an interactive metagenomics analysis portal for universal pathogen detection and host mRNA expression profiling
Steven Flygare, Keith Simmon, Chase Miller, et al.
Cell Genomics
|
March 21, 2022
The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identification
Alex H Wagner, Lawrence Babb, Gil Alterovitz, et al.
Molecular Genetics & Genomic Medicine
|
February 4, 2022
Comprehensive variant calling from whole-genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia
Thomas J Nicholas, Najla Al-Sweel, Andrew Farrell, et al.
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of 1
Search research articles
Search
Showing results (1-10 of 7) with videos related to
Sort By:
Page
of 1
AMIA ... Annual Symposium Proceedings. AMIA Symposium
|
April 21, 2020
Implementing the VMC Specification to Reduce Ambiguity in Genomic Variant Representation
Michael Watkins, Shawn Rynearson, Alex Henrie, et al.
Peerj
|
October 11, 2013
Integrating precision medicine in the study and clinical treatment of a severely mentally ill person
Jason A O'Rawe, Han Fang, Shawn Rynearson, et al.
Cold Spring Harbor Molecular Case Studies
|
November 15, 2022
Rapid genome sequencing identifies a novel de novo <i>SNAP25</i> variant for neonatal congenital myasthenic syndrome
Hayley M Reynolds, Ting Wen, Andrew Farrell, et al.
Genome Medicine
|
January 14, 2017
ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants
Ronak Y Patel, Neethu Shah, Andrew R Jackson, et al.
Genome Biology
|
May 27, 2016
Taxonomer: an interactive metagenomics analysis portal for universal pathogen detection and host mRNA expression profiling
Steven Flygare, Keith Simmon, Chase Miller, et al.
Cell Genomics
|
March 21, 2022
The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identification
Alex H Wagner, Lawrence Babb, Gil Alterovitz, et al.
Molecular Genetics & Genomic Medicine
|
February 4, 2022
Comprehensive variant calling from whole-genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia
Thomas J Nicholas, Najla Al-Sweel, Andrew Farrell, et al.
Page
of 1