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Eliza Wieman

dblp:424/4387 · DBLP profile ↗
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1ranked-venue papers
0as first author
1since 2021 · last 2024
0000-0002-6807-7632ORCID · reported

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

TopicWeightPapersLastEvidence papers
Bioinformatics and computational biology › genomics
computational genomics
0.812024
NPSV-deep: a deep learning method for genotyping structural variants in short read genome sequencing data · Bioinform. 2024
Bioinformatics and computational biology › genomics › structural variation
structural variant analysis
0.812024
NPSV-deep: a deep learning method for genotyping structural variants in short read genome sequencing data · Bioinform. 2024
Bioinformatics and computational biology › genomics › structural variation
structural variant genotyping
0.812024
NPSV-deep: a deep learning method for genotyping structural variants in short read genome sequencing data · Bioinform. 2024

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

pileup image simulation · 0.8image similarity · 0.8deep learning · 0.8
YearPublicationVenuePosition
2024 NPSV-deep: a deep learning method for genotyping structural variants in short read genome sequencing data
abstract
MOTIVATION: Structural variants (SVs) play a causal role in numerous diseases but can be difficult to detect and accurately genotype (determine zygosity) with short-read genome sequencing data (SRS). Improving SV genotyping accuracy in SRS data, particularly for the many SVs first detected with long-read sequencing, will improve our understanding of genetic variation. RESULTS: NPSV-deep is a deep learning-based approach for genotyping previously reported insertion and deletion SVs that recasts this task as an image similarity problem. NPSV-deep predicts the SV genotype based on the similarity between pileup images generated from the actual SRS data and matching SRS simulations. We show that NPSV-deep consistently matches or improves upon the state-of-the-art for SV genotyping accuracy across different SV call sets, samples and variant types, including a 25% reduction in genotyping errors for the Genome-in-a-Bottle (GIAB) high-confidence SVs. NPSV-deep is not limited to the SVs as described; it improves deletion genotyping concordance a further 1.5 percentage points for GIAB SVs (92%) by automatically correcting imprecise/incorrectly described SVs. AVAILABILITY AND IMPLEMENTATION: Python/C++ source code and pre-trained models freely available at https://github.com/mlinderm/npsv2.
Michael D. Linderman, Jacob Wallace, Alderik van der Heyde, Eliza Wieman, Daniel Brey, Yiran Shi, Zahra Shamsi, Jeremiah Liu, Bruce D. Gelb, Ali Bashir
Bioinform.4