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Adam English

dblp:373/5636 · DBLP profile ↗
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1ranked-venue papers
0as first author
1since 2021 · last 2021
—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 · 100%

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

TopicWeightPapersLastEvidence papers
Bioinformatics and computational biology › genomics › structural variation
structural variant genotyping
0.512021
muCNV: genotyping structural variants for population-level sequencing · Bioinform. 2021
Bioinformatics and computational biology › genomics
population-scale sequencing
0.112021
muCNV: genotyping structural variants for population-level sequencing · Bioinform. 2021

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

pileup aggregation · 0.5
YearPublicationVenuePosition
2021 muCNV: genotyping structural variants for population-level sequencing
abstract
MOTIVATION: There are high demands for joint genotyping of structural variations with short-read sequencing, but efficient and accurate genotyping in population scale is a challenging task. RESULTS: We developed muCNV that aggregates per-sample summary pileups for joint genotyping of > 100,000 samples. Pilot results show very low Mendelian inconsistencies. Applications to large-scale projects in cloud show the computational efficiencies of muCNV genotyping pipeline. AVAILABILITY: muCNV is publicly available for download at: https://github.com/gjun/muCNV. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
Goo Jun, Fritz J. Sedlazeck, Qihui Zhu, Adam English, Ginger Metcalf, Hyun Min Kang, Charles Lee, Richard A. Gibbs, Eric Boerwinkle
Bioinform.4