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Lolita Lecompte

dblp:198/1032 · DBLP profile ↗
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2ranked-venue papers
1as first author
0since 2021 · last 2020
0000-0001-8773-6317ORCID · corroborated

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

Theory of computation · 1Applied, interdisciplinary, general and emerging computing · 1 · 1 first-author

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 variant analysis
0.412020
SVJedi: genotyping structural variations with long reads · Bioinform. 2020
Bioinformatics and computational biology › genomics › structural variation
structural variant genotyping
0.412020
SVJedi: genotyping structural variations with long reads · Bioinform. 2020

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

read filtering · 0.4allele sequence alignment · 0.4
YearPublicationVenuePosition
2020 SVJedi: genotyping structural variations with long reads
abstract
MOTIVATION: Studies on structural variants (SVs) are expanding rapidly. As a result, and thanks to third generation sequencing technologies, the number of discovered SVs is increasing, especially in the human genome. At the same time, for several applications such as clinical diagnoses, it is important to genotype newly sequenced individuals on well-defined and characterized SVs. Whereas several SV genotypers have been developed for short read data, there is a lack of such dedicated tool to assess whether known SVs are present or not in a new long read sequenced sample, such as the one produced by Pacific Biosciences or Oxford Nanopore Technologies. RESULTS: We present a novel method to genotype known SVs from long read sequencing data. The method is based on the generation of a set of representative allele sequences that represent the two alleles of each structural variant. Long reads are aligned to these allele sequences. Alignments are then analyzed and filtered out to keep only informative ones, to quantify and estimate the presence of each SV allele and the allele frequencies. We provide an implementation of the method, SVJedi, to genotype SVs with long reads. The tool has been applied to both simulated and real human datasets and achieves high genotyping accuracy. We show that SVJedi obtains better performances than other existing long read genotyping tools and we also demonstrate that SV genotyping is considerably improved with SVJedi compared to other approaches, namely SV discovery and short read SV genotyping approaches. AVAILABILITY AND IMPLEMENTATION: https://github.com/llecompte/SVJedi.git. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
Lolita Lecompte, Pierre Peterlongo, Dominique Lavenier, Claire Lemaitre
Bioinform.1
2020 A resource-frugal probabilistic dictionary and applications in bioinformatics
Camille Marchet, Lolita Lecompte, Antoine Limasset, Lucie Bittner, Pierre Peterlongo
Discret. Appl. Math.2