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Sergey Vilov

dblp:370/5295 · DBLP profile ↗
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1ranked-venue papers
1as first author
1since 2021 · last 2023
0000-0002-2609-1356ORCID · 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 › cancer genomics › somatic mutation analysis
somatic mutation detection
0.712023
DeepSom: a CNN-based approach to somatic variant calling in WGS samples without a matched normal · Bioinform. 2023
Bioinformatics and computational biology › genomics
genome sequencing
0.212023
DeepSom: a CNN-based approach to somatic variant calling in WGS samples without a matched normal · Bioinform. 2023

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

convolutional neural network · 0.7
YearPublicationVenuePosition
2023 DeepSom: a CNN-based approach to somatic variant calling in WGS samples without a matched normal
abstract
MOTIVATION: Somatic mutations are usually called by analyzing the DNA sequence of a tumor sample in conjunction with a matched normal. However, a matched normal is not always available, for instance, in retrospective analysis or diagnostic settings. For such cases, tumor-only somatic variant calling tools need to be designed. Previously proposed approaches demonstrate inferior performance on whole-genome sequencing (WGS) samples. RESULTS: We present the convolutional neural network-based approach called DeepSom for detecting somatic single nucleotide polymorphism and short insertion and deletion variants in tumor WGS samples without a matched normal. We validate DeepSom by reporting its performance on five different cancer datasets. We also demonstrate that on WGS samples DeepSom outperforms previously proposed methods for tumor-only somatic variant calling. AVAILABILITY AND IMPLEMENTATION: DeepSom is available as a GitHub repository at https://github.com/heiniglab/DeepSom. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
Sergey Vilov, Matthias Heinig
Bioinform.1