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Thong Minh Le

dblp:251/2931 · DBLP profile ↗
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1ranked-venue papers
0as first author
0since 2021 · last 2019
—ORCID · none

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

Applied, interdisciplinary, general and emerging computing · 1

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 › structural variation
segmental duplication detection
0.412019
Discovery of tandem and interspersed segmental duplications using high-throughput sequencing · Bioinform. 2019
Bioinformatics and computational biology › genomics › structural variation
structural variant detection
0.412019
Discovery of tandem and interspersed segmental duplications using high-throughput sequencing · Bioinform. 2019
Bioinformatics and computational biology › genomics
genome sequencing
0.112019
Discovery of tandem and interspersed segmental duplications using high-throughput sequencing · Bioinform. 2019

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

split-read analysis · 0.4read-pair analysis · 0.4read depth analysis · 0.4
YearPublicationVenuePosition
2019 Discovery of tandem and interspersed segmental duplications using high-throughput sequencing
abstract
MOTIVATION: Several algorithms have been developed that use high-throughput sequencing technology to characterize structural variations (SVs). Most of the existing approaches focus on detecting relatively simple types of SVs such as insertions, deletions and short inversions. In fact, complex SVs are of crucial importance and several have been associated with genomic disorders. To better understand the contribution of complex SVs to human disease, we need new algorithms to accurately discover and genotype such variants. Additionally, due to similar sequencing signatures, inverted duplications or gene conversion events that include inverted segmental duplications are often characterized as simple inversions, likewise, duplications and gene conversions in direct orientation may be called as simple deletions. Therefore, there is still a need for accurate algorithms to fully characterize complex SVs and thus improve calling accuracy of more simple variants. RESULTS: We developed novel algorithms to accurately characterize tandem, direct and inverted interspersed segmental duplications using short read whole genome sequencing datasets. We integrated these methods to our TARDIS tool, which is now capable of detecting various types of SVs using multiple sequence signatures such as read pair, read depth and split read. We evaluated the prediction performance of our algorithms through several experiments using both simulated and real datasets. In the simulation experiments, using a 30× coverage TARDIS achieved 96% sensitivity with only 4% false discovery rate. For experiments that involve real data, we used two haploid genomes (CHM1 and CHM13) and one human genome (NA12878) from the Illumina Platinum Genomes set. Comparison of our results with orthogonal PacBio call sets from the same genomes revealed higher accuracy for TARDIS than state-of-the-art methods. Furthermore, we showed a surprisingly low false discovery rate of our approach for discovery of tandem, direct and inverted interspersed segmental duplications prediction on CHM1 (<5% for the top 50 predictions). AVAILABILITY AND IMPLEMENTATION: TARDIS source code is available at https://github.com/BilkentCompGen/tardis, and a corresponding Docker image is available at https://hub.docker.com/r/alkanlab/tardis/. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
Arda Söylev, Thong Minh Le, Hajar Amini, Can Alkan, Fereydoun Hormozdiari
Bioinform.2