Variant interpretation: UCSC Genome Browser Recommended Track Sets-Reference-Cited by-同舟云学术

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Variant interpretation: UCSC Genome Browser Recommended Track Sets

Published:2022-02-07 Issue:8 Volume:43 Page:998-1011
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Benet‐Pagès Anna¹²,Rosenbloom Kate R.¹,Nassar Luis R.¹,Lee Christopher M.¹,Raney Brian J.¹,Clawson Hiram¹,Schmelter Daniel¹,Casper Jonathan¹,Gonzalez Jairo Navarro¹,Perez Gerardo¹,Lee Brian T.¹,Zweig Ann S.¹,Kent W. James¹,Haeussler Maximillian¹,Kuhn Robert M.¹

Affiliation:

1. Genomics Institute University of California Santa Cruz Santa Cruz California USA

2. Medical Genetics Center (MGZ) Munich Germany

Funder

California Institute for Regenerative Medicine

NIH Clinical Center

Center for Information Technology Research in the Interest of Society

National Human Genome Research Institute

Silicon Valley Community Foundation

Publisher

Hindawi Limited

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24335

Reference40 articles.

1. Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies

2. AVADA: toward automated pathogenic variant evidence retrieval directly from the full-text literature

3. Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

4. Mastermind: A Comprehensive Genomic Association Search Engine for Empirical Evidence Curation and Genetic Variant Interpretation

5. A structural variation reference for medical and population genetics

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1. Computational Tools for Genomics Data Analysis;Advances in Genomics;2024

2. PHINDaccess Hackathons for COVID-19 and Host-Pathogen Interaction: Lessons Learned and Recommendations for Low- and Middle-Income Countries;BioMed Research International;2023-10-10

3. The UCSC Genome Browser database: 2023 update;Nucleic Acids Research;2022-11-24

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