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Peter McHale

dblp:314/4223 · DBLP profile ↗
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1ranked-venue papers
1as first author
1since 2021 · last 2022
0000-0001-6452-1786ORCID · reported

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

Applied, interdisciplinary, general and emerging computing · 1 · 1 first-author · 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 variation detection
0.612022
trfermikit: a tool to discover VNTR-associated deletions · Bioinform. 2022
Bioinformatics and computational biology › genomics
variant calling
0.612022
trfermikit: a tool to discover VNTR-associated deletions · Bioinform. 2022

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

read mapping · 0.6read assembly · 0.6
YearPublicationVenuePosition
2022 trfermikit: a tool to discover VNTR-associated deletions
abstract
SUMMARY: We present trfermikit, a software tool designed to detect deletions larger than 50 bp occurring in Variable Number Tandem Repeats using Illumina DNA sequencing reads. In such regions, it achieves a better tradeoff between sensitivity and false discovery than a state-of-the-art structural variation caller, Manta and complements it by recovering a significant number of deletions that Manta missed. trfermikit is based upon the fermikit pipeline, which performs read assembly, maps the assembly to the reference genome and calls variants from the alignment. AVAILABILITY AND IMPLEMENTATION: https://github.com/petermchale/trfermikit. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
Peter McHale, Aaron R. Quinlan
Bioinform.1