Erin L. Heinzen

dblp:97/9844 · DBLP profile ↗
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1ranked-venue papers
0as first author
0since 2021 · last 2011
—ORCID · unresolved

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

Applied, interdisciplinary, general and emerging computing · 1

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 · 100%

Topics — the 2 heaviest of 3, each with the papers that count most for it

TopicWeightPapersLastEvidence papers
Bioinformatics and computational biology › genome annotation
genomic variant annotation
0.112011
SVA: software for annotating and visualizing sequenced human genomes · Bioinform. 2011
Bioinformatics and computational biology › genomics › genome visualization
variant visualization
0.112011
SVA: software for annotating and visualizing sequenced human genomes · Bioinform. 2011

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

functional variant prediction · 0.1
YearPublicationVenuePosition
2011 SVA: software for annotating and visualizing sequenced human genomes
abstract
SUMMARY: Here we present Sequence Variant Analyzer (SVA), a software tool that assigns a predicted biological function to variants identified in next-generation sequencing studies and provides a browser to visualize the variants in their genomic contexts. SVA also provides for flexible interaction with software implementing variant association tests allowing users to consider both the bioinformatic annotation of identified variants and the strength of their associations with studied traits. We illustrate the annotation features of SVA using two simple examples of sequenced genomes that harbor Mendelian mutations. AVAILABILITY AND IMPLEMENTATION: Freely available on the web at http://www.svaproject.org.
Dongliang Ge, Elizabeth K. Ruzzo, Kevin V. Shianna, Kimberly Pelak, Erin L. Heinzen, Anna C. Need, Elizabeth T. Cirulli, Jessica M. Maia, Samuel P. Dickson, Mingfu Zhu, Abanish Singh, Andrew S. Allen, David B. Goldstein
Bioinform.6