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HGVS Recommendations for the Description of Sequence Variants: 2016 Update

Human mutation, 2016-06, Vol.37 (6), p.564-569

2016

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SeqRepo: A system for managing local collections of biological sequences

PloS one, 2020-12, Vol.15 (12), p.e0239883-e0239883

2020

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VariantValidator: Accurate validation, mapping, and formatting of sequence variation descriptions

Human mutation, 2018-01, Vol.39 (1), p.61-68

2018

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A Python package for parsing, validating, mapping and formatting sequence variants using HGVS nomenclature

Bioinformatics (Oxford, England), 2015-01, Vol.31 (2), p.268-270

2015

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Somatic cancer variant curation and harmonization through consensus minimum variant level data

Genome medicine, 2016-11, Vol.8 (1), p.117-9, Article 117

2016

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hgvs: A Python package for manipulating sequence variants using HGVS nomenclature: 2018 Update

Human mutation, 2018-12, Vol.39 (12), p.1803-1813

2018

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The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identification

Cell genomics, 2021-11, Vol.1 (2), p.100027, Article 100027

2021

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Development and application of a computable genotype model in the GA4GH Variation Representation Specification

Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing, 2023, Vol.28, p.383

2023

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Analysis and Application of Potential Energy Smoothing and Search Methods for Global Optimization

The journal of physical chemistry. B, 1998-11, Vol.102 (48), p.9725-9742

1998

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Pathogenicity Interpretation in the Age of Precision Medicine: The 2015 Annual Scientific Meeting of the Human Genome Variation Society

Human Mutation, 2016-04, Vol.37 (4), p.406-411

2016

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Unison: an integrated platform for computational biology discovery

Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing, 2009, p.403

2009

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31. A cross-consortia initiative for aligning the definitions and descriptions of gene fusions

Cancer genetics, 2024-08, Vol.286-287, p.S10-S10

2024

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Abstract 1096: Harmonization standards from the Variant Interpretation for Cancer Consortium

Cancer research (Chicago, Ill.), 2020-08, Vol.80 (16_Supplement), p.1096-1096

2020

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Abstract P4-12-07: Technical evaluation of multigene testing for hereditary breast and ovarian cancer

Cancer research (Chicago, Ill.), 2015-05, Vol.75 (9_Supplement), p.P4-P4-12-07

2015

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Pathogenicity Interpretation in the Age of Precision Medicine: The 2015 Annual Scientific Meeting of the Human Genome Variation Society: HUMAN MUTATION

Human mutation, 2016-04, Vol.37 (4), p.406-411

2016

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59. Integrating cytogenomic and sequence variants in the GA4GH variation representation specification

Cancer genetics, 2020-06, Vol.244, p.22-23

2020

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Exploring the similarities between potential smoothing and simulated annealing

Journal of computational chemistry, 2000-05, Vol.21 (7), p.531-552

2000

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Systematic and fully automated identification of protein sequence patterns

Journal of computational biology, 2000-01, Vol.7 (3-4), p.585-600

2000

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Potential function smoothing with applications to molecular docking

Hart, Reece Kimball

1998

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Isolation, localization, and physical mapping of a highly polymorphic locus on human chromosome 11q13

Genomics (San Diego, Calif.), 1991-11, Vol.11 (3), p.720-729

1991

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Systematic and automated discovery of patterns in PROSITE families

Annual Conference on Research in Computational Molecular Biology: Proceedings of the fourth annual international conference on Computational molecular biology, 2000, p.147-154

2000

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The children of narcissus: Insights into narcissists' parenting styles

Personality and individual differences, 2017-10, Vol.117, p.249-254

2017

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Critical Care Services and 2009 H1N1 Influenza in Australia and New Zealand

The New England journal of medicine, 2009-11, Vol.361 (20), p.1925-1934

2009

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Potent and Long-Acting Dimeric Inhibitors of Influenza Virus Neuraminidase Are Effective at a Once-Weekly Dosing Regimen

Antimicrobial Agents and Chemotherapy, 2004-12, Vol.48 (12), p.4542-4549

2004

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An in-situ examination of the timing of information pick-up for interception by cricket batsmen of different skill levels

Psychology of sport and exercise, 2009-11, Vol.10 (6), p.644-652

2009

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HGVS Recommendations for the Description of Sequence Variants: 2016 Update

SeqRepo: A system for managing local collections of biological sequences

VariantValidator: Accurate validation, mapping, and formatting of sequence variation descriptions

A Python package for parsing, validating, mapping and formatting sequence variants using HGVS nomenclature

Somatic cancer variant curation and harmonization through consensus minimum variant level data

hgvs: A Python package for manipulating sequence variants using HGVS nomenclature: 2018 Update

The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identification

Development and application of a computable genotype model in the GA4GH Variation Representation Specification

Analysis and Application of Potential Energy Smoothing and Search Methods for Global Optimization

Pathogenicity Interpretation in the Age of Precision Medicine: The 2015 Annual Scientific Meeting of the Human Genome Variation Society

Unison: an integrated platform for computational biology discovery

31. A cross-consortia initiative for aligning the definitions and descriptions of gene fusions

Abstract 1096: Harmonization standards from the Variant Interpretation for Cancer Consortium

Abstract P4-12-07: Technical evaluation of multigene testing for hereditary breast and ovarian cancer

Pathogenicity Interpretation in the Age of Precision Medicine: The 2015 Annual Scientific Meeting of the Human Genome Variation Society: HUMAN MUTATION

59. Integrating cytogenomic and sequence variants in the GA4GH variation representation specification

Exploring the similarities between potential smoothing and simulated annealing

Systematic and fully automated identification of protein sequence patterns

Potential function smoothing with applications to molecular docking

Isolation, localization, and physical mapping of a highly polymorphic locus on human chromosome 11q13

Systematic and automated discovery of patterns in PROSITE families

The children of narcissus: Insights into narcissists' parenting styles

Critical Care Services and 2009 H1N1 Influenza in Australia and New Zealand

Potent and Long-Acting Dimeric Inhibitors of Influenza Virus Neuraminidase Are Effective at a Once-Weekly Dosing Regimen

An in-situ examination of the timing of information pick-up for interception by cricket batsmen of different skill levels

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