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William M. Brandler

dblp:219/8724 · DBLP profile ↗
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1ranked-venue papers
0as first author
0since 2021 · last 2018
0000-0001-5280-325XORCID · reported

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

TopicWeightPapersLastEvidence papers
Bioinformatics and computational biology › genomics › variant calling
de novo mutation detection
0.312018
SV2: accurate structural variation genotyping and de novo mutation detection from whole genomes · Bioinform. 2018
Bioinformatics and computational biology › genomics › structural variation
structural variant genotyping
0.312018
SV2: accurate structural variation genotyping and de novo mutation detection from whole genomes · Bioinform. 2018
Bioinformatics and computational biology › genomics › structural variation
structural variation detection
0.312018
SV2: accurate structural variation genotyping and de novo mutation detection from whole genomes · Bioinform. 2018

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

paired-end sequencing · 0.3machine learning · 0.3
YearPublicationVenuePosition
2018 SV2: accurate structural variation genotyping and de novo mutation detection from whole genomes
abstract
Motivation: Structural variation (SV) detection from short-read whole genome sequencing is error prone, presenting significant challenges for population or family-based studies of disease. Results: Here, we describe SV2, a machine-learning algorithm for genotyping deletions and duplications from paired-end sequencing data. SV2 can rapidly integrate variant calls from multiple structural variant discovery algorithms into a unified call set with high genotyping accuracy and capability to detect de novo mutations. Availability and implementation: SV2 is freely available on GitHub (https://github.com/dantaki/SV2). Contact: [email protected]. Supplementary information: Supplementary data are available at Bioinformatics online.
Danny Antaki, William M. Brandler, Jonathan Sebat
Bioinform.2