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Melissa Cline

Showing results (21-30 of 28) with videos related to

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American Journal of Human Genetics|September 24, 2024
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variantsMarcy E Richardson, Megan Holdren, Terra Brannan, et al.
American Journal of Human Genetics|March 27, 2026
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variantsMarcy E Richardson, Megan Holdren, Terra Brannan, et al.
Medrxiv : the Preprint Server for Health Sciences|June 10, 2024
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline <i>ATM</i> sequence variantsMarcy E Richardson, Megan Holdren, Terra Brannan, et al.
Neuron|August 14, 2012
Muscleblind-like 2-mediated alternative splicing in the developing brain and dysregulation in myotonic dystrophyKonstantinos Charizanis, Kuang-Yung Lee, Ranjan Batra, et al.
Nature Biotechnology|April 12, 2017
Toil enables reproducible, open source, big biomedical data analysesJohn Vivian, Arjun Arkal Rao, Frank Austin Nothaft, et al.
Cell Genomics|March 21, 2022
The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identificationAlex H Wagner, Lawrence Babb, Gil Alterovitz, et al.
Human Mutation|May 26, 2017
Matching phenotypes to whole genomes: Lessons learned from four iterations of the personal genome project community challengesBinghuang Cai, Biao Li, Nikki Kiga, et al.
Cell Genomics|January 24, 2022
GA4GH: International policies and standards for data sharing across genomic research and healthcareHeidi L Rehm, Angela J H Page, Lindsay Smith, et al.
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Showing results (21-30 of 28) with videos related to

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Pageof 3
You have reached the last page of results.This site can display upto 28 results.
American Journal of Human Genetics|September 24, 2024
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variantsMarcy E Richardson, Megan Holdren, Terra Brannan, et al.
American Journal of Human Genetics|March 27, 2026
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variantsMarcy E Richardson, Megan Holdren, Terra Brannan, et al.
Medrxiv : the Preprint Server for Health Sciences|June 10, 2024
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline <i>ATM</i> sequence variantsMarcy E Richardson, Megan Holdren, Terra Brannan, et al.
Neuron|August 14, 2012
Muscleblind-like 2-mediated alternative splicing in the developing brain and dysregulation in myotonic dystrophyKonstantinos Charizanis, Kuang-Yung Lee, Ranjan Batra, et al.
Nature Biotechnology|April 12, 2017
Toil enables reproducible, open source, big biomedical data analysesJohn Vivian, Arjun Arkal Rao, Frank Austin Nothaft, et al.
Cell Genomics|March 21, 2022
The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identificationAlex H Wagner, Lawrence Babb, Gil Alterovitz, et al.
Human Mutation|May 26, 2017
Matching phenotypes to whole genomes: Lessons learned from four iterations of the personal genome project community challengesBinghuang Cai, Biao Li, Nikki Kiga, et al.
Cell Genomics|January 24, 2022
GA4GH: International policies and standards for data sharing across genomic research and healthcareHeidi L Rehm, Angela J H Page, Lindsay Smith, et al.
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