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Thomas Lion

dblp:309/3645 · DBLP profile ↗
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1ranked-venue papers
0as first author
1since 2021 · last 2021
—ORCID · unresolved

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 4 heaviest of 4, each with the papers that count most for it

TopicWeightPapersLastEvidence papers
Bioinformatics and computational biology
genomics
0.512021
Nanopanel2 calls phased low-frequency variants in Nanopore panel sequencing data · Bioinform. 2021
Bioinformatics and computational biology › statistical genetics › haplotype analysis
haplotype phasing
0.512021
Nanopanel2 calls phased low-frequency variants in Nanopore panel sequencing data · Bioinform. 2021
Bioinformatics and computational biology › cancer genomics › somatic mutation analysis
somatic mutation detection
0.512021
Nanopanel2 calls phased low-frequency variants in Nanopore panel sequencing data · Bioinform. 2021
Bioinformatics and computational biology › genomics
variant calling
0.512021
Nanopanel2 calls phased low-frequency variants in Nanopore panel sequencing data · Bioinform. 2021

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

allele probability distribution · 0.5
YearPublicationVenuePosition
2021 Nanopanel2 calls phased low-frequency variants in Nanopore panel sequencing data
abstract
MOTIVATION: Clinical decision making is increasingly guided by accurate and recurrent determination of presence and frequency of (somatic) variants and their haplotype through panel sequencing of disease-relevant genomic regions. Haplotype calling (phasing), however, is difficult and error prone unless variants are located on the same read which limits the ability of short-read sequencing to detect, e.g. co-occurrence of drug-resistance variants. Long-read panel sequencing enables direct phasing of amplicon variants besides having multiple other benefits, however, high error rates of current technologies prevented their applicability in the past. RESULTS: We have developed Nanopanel2, a variant caller for Nanopore panel sequencing data. Nanopanel2 works directly on base-called FAST5 files and uses allele probability distributions and several other filters to robustly separate true from false positive (FP) calls. It effectively calls SNVs and INDELs with variant allele frequencies as low as 1% and 5%, respectively, and produces only few low-frequency false-positive calls (∼1 FP call with VAF<5% per kb amplicon). Haplotype compositions are then determined by direct phasing. Nanopanel2 is the first somatic variant caller for Nanopore data, enabling accurate, fast (turnaround <48 h) and cheap (sequencing costs ∼10$/sample) diagnostic workflows. AVAILABILITYAND IMPLEMENTATION: The data for this study have been deposited at zenodo.org under DOIs accession numbers 4110691 and 4110698. Nanopanel2 is open source and available at https://github.com/popitsch/nanopanel2. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
Niko Popitsch, Sandra Preuner, Thomas Lion
Bioinform.3