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Rebecca S. Kaufman

dblp:424/4553 · DBLP profile ↗
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1ranked-venue papers
0as first author
1since 2021 · last 2024
—ORCID · none

Domains — the database's venue-derived domains; a paper can count in several

Applied, interdisciplinary, general and emerging computing · 1 · 1 since 2021

Expertise — from the expertise taxonomy: the topics of the expert's papers under the CCF categories. A weight counts papers with recency: 1 for a paper about the topic, 0.3 when the topic is its context, halved every five years.

Interdisciplinary, comprehensive, and emerging computing
1 paper
Bioinformatics and computational biology · 67% Medical and health informatics · 33%

Topics — the 3 heaviest of 3, each with the papers that count most for it

TopicWeightPapersLastEvidence papers
Medical and health informatics
clinical genomics
0.812024
AutoGVP: a dockerized workflow integrating ClinVar and InterVar germline sequence variant classification · Bioinform. 2024
Bioinformatics and computational biology › genome annotation
genomic variant annotation
0.812024
AutoGVP: a dockerized workflow integrating ClinVar and InterVar germline sequence variant classification · Bioinform. 2024
Bioinformatics and computational biology › statistical genetics › variant effect prediction
variant pathogenicity prediction
0.812024
AutoGVP: a dockerized workflow integrating ClinVar and InterVar germline sequence variant classification · Bioinform. 2024

Methods — techniques the papers use, named apart from their topics

intervar · 0.8clinvar integration · 0.8ACMG-AMP criteria · 0.8
YearPublicationVenuePosition
2024 AutoGVP: a dockerized workflow integrating ClinVar and InterVar germline sequence variant classification
abstract
SUMMARY: With the increasing rates of exome and whole genome sequencing, the ability to classify large sets of germline sequencing variants using up-to-date American College of Medical Genetics-Association for Molecular Pathology (ACMG-AMP) criteria is crucial. Here, we present Automated Germline Variant Pathogenicity (AutoGVP), a tool that integrates germline variant pathogenicity annotations from ClinVar and sequence variant classifications from a modified version of InterVar (PVS1 strength adjustments, removal of PP5/BP6). This tool facilitates large-scale, clinically focused classification of germline sequence variants in a research setting. AVAILABILITY AND IMPLEMENTATION: AutoGVP is an open source dockerized workflow implemented in R and freely available on GitHub at https://github.com/diskin-lab-chop/AutoGVP.
Jung Kim, Ammar S. Naqvi, Ryan J. Corbett, Rebecca S. Kaufman, Zalman Vaksman, Miguel A. Brown, Daniel P. Miller, Saksham Phul, Zhuangzhuang Geng, Phillip B. Storm, Adam C. Resnick, Douglas R. Stewart, Jo Lynne Rokita, Sharon J. Diskin
Bioinform.4