Reece K. Hart

HGVS Nomenclature 2024: improvements to community engagement, usability, and computability

Reece K. Hart, Ivo F.A.C. Fokkema, Marina T. DiStefano, Ros Hastings et autres

BACKGROUND: The Human Genome Variation Society (HGVS) Nomenclature is the global standard for describing and communicating variants in DNA, RNA, and protein sequences in clinical and research genomics. This manuscript details recent updates to the HGVS Nomenclature, highlighting improvements in governance, community …

hu, nl, us, gb (code pays fourni par la source)

HGVS Nomenclature 2024: Improvements to community engagement, usability, and computability.

Reece K. Hart, Ivo F.A.C. Fokkema, Marina T. DiStefano, Ros Hastings et autres

Background: The Human Genome Variation Society (HGVS) Nomenclature is the global standard for describing and communicating variants in DNA, RNA, and protein sequences in clinical and research genomics. This manuscript details recent updates to the HGVS Nomenclature, highlighting improvements in governance, community …

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

Alex H. Wagner, Reece K. Hart, Johan T. den Dunnen, Elspeth A. Bruford et autres

us, nl, gb, kr, au (code pays fourni par la source)

CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods

Shantanu Jain, Constantina Bakolitsa, Steven E. Brenner, Predrag Radivojac et autres

BACKGROUND: The Critical Assessment of Genome Interpretation (CAGI) aims to advance the state-of-the-art for computational prediction of genetic variant impact, particularly where relevant to disease. The five complete editions of the CAGI community experiment comprised 50 challenges, in which participants made blind …

be (code pays fourni par la source)

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

Wesley Goar, Lawrence Babb, Srikar Chamala, Melissa Cline et autres

As the diversity of genomic variation data increases with our growing understanding of the role of variation in health and disease, it is critical to develop standards for precise inter-system exchange of these data for research and clinical applications. The Global Alliance …

us, gb (code pays fourni par la source)

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

Wesley Goar, Lawrence Babb, Srikar Chamala, Melissa Cline et autres

As the diversity of genomic variation data increases with our growing understanding of the role of variation in health and disease, it is critical to develop standards for precise inter-system exchange of these data for research and clinical applications. The Global Alliance …

us, gb (code pays fourni par la source)

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

Alex H. Wagner, Lawrence Babb, Gil Alterovitz, Michael Baudis et autres

Maximizing the personal, public, research, and clinical value of genomic information will require the reliable exchange of genetic variation data. We report here the Variation Representation Specification (VRS, pronounced "verse"), an extensible framework for the computable representation of variation that complements contemporary …

us, ch, au, gb, ca (code pays fourni par la source)

GA4GH: International policies and standards for data sharing across genomic research and healthcare

Heidi L. Rehm, Angela Page, Lindsay Smith, Jeremy Adams et autres

The Global Alliance for Genomics and Health (GA4GH) aims to accelerate biomedical advances by enabling the responsible sharing of clinical and genomic data through both harmonized data aggregation and federated approaches. The decreasing cost of genomic sequencing (along with other genome-wide molecular …

us, ca, ch, gb, es, au, qa, hk, cz, at, tw, sg, jp (code pays fourni par la source)

The GA4GH Variation Representation Specification (VRS): a Computational Framework for the Precise Representation and Federated Identification of Molecular Variation

Alex H. Wagner, Lawrence Babb, Gil Alterovitz, Michael Baudis et autres

Abstract Maximizing the personal, public, research, and clinical value of genomic information will require that clinicians, researchers, and testing laboratories exchange genetic variation data reliably. Developed by a partnership among national information resource providers, public initiatives, and diagnostic testing laboratories under the …

us, ch, au, gb, ca (code pays fourni par la source)

SeqRepo: A system for managing local collections of biological sequences

Reece K. Hart, Andreas Prlić

MOTIVATION: Access to biological sequence data, such as genome, transcript, or protein sequence, is at the core of many bioinformatics analysis workflows. The National Center for Biotechnology Information (NCBI), Ensembl, and other sequence database maintainers provide methods to access sequences through network …

us (code pays fourni par la source)

SeqRepo: A system for managing local collections biological sequences

Reece K. Hart, Andreas Prlić

Abstract Motivation Access to biological sequence data, such as genome, transcript, or protein sequence, is at the core of many bioinformatics analysis workflows. The National Center for Biotechnology Information (NCBI), Ensembl, and other sequence database maintainers provide methods to access sequences through …

us (code pays fourni par la source)

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

Alex H. Wagner, Reece K. Hart, Robert R. Freimuth, Adam Coffman et autres

Abstract The use of clinical gene sequencing is now commonplace, and genome analysts and molecular pathologists are often tasked with the labor-intensive process of interpreting the clinical significance of large numbers of tumor variants. Numerous independent knowledgebases have been constructed to alleviate …

us, de, ca (code pays fourni par la source)