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Yoshihiko Suzuki

dblp:232/2830 · DBLP profile ↗
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2ranked-venue papers
1as first author
2since 2021 · last 2023
0000-0002-8807-2206ORCID · reported

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

Applied, interdisciplinary, general and emerging computing · 2 · 1 first-author · 2 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 › sequence analysis › sequence assembly › genome assembly
diploid genome assembly
0.712023
JTK: targeted diploid genome assembler · Bioinform. 2023
Bioinformatics and computational biology
genomics
0.712023
JTK: targeted diploid genome assembler · Bioinform. 2023
Bioinformatics and computational biology › statistical genetics › haplotype analysis
haplotype phasing
0.712023
JTK: targeted diploid genome assembler · Bioinform. 2023

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

variant phasing · 0.7long-read sequencing · 0.7
YearPublicationVenuePosition
2023 JTK: targeted diploid genome assembler
abstract
MOTIVATION: Diploid assembly, or determining sequences of homologous chromosomes separately, is essential to elucidate genetic differences between haplotypes. One approach is to call and phase single nucleotide variants (SNVs) on a reference sequence. However, this approach becomes unstable on large segmental duplications (SDs) or structural variations (SVs) because the alignments of reads deriving from these regions tend to be unreliable. Another approach is to use highly accurate PacBio HiFi reads to output diploid assembly directly. Nonetheless, HiFi reads cannot phase homozygous regions longer than their length and require oxford nanopore technology (ONT) reads or Hi-C to produce a fully phased assembly. Is a single long-read sequencing technology sufficient to create an accurate diploid assembly? RESULTS: Here, we present JTK, a megabase-scale diploid genome assembler. It first randomly samples kilobase-scale sequences (called 'chunks') from the long reads, phases variants found on them, and produces two haplotypes. The novel idea of JTK is to utilize chunks to capture SNVs and SVs simultaneously. From 60-fold ONT reads on the HG002 and a Japanese sample, it fully assembled two haplotypes with approximately 99.9% accuracy on the histocompatibility complex (MHC) and the leukocyte receptor complex (LRC) regions, which was impossible by the reference-based approach. In addition, in the LRC region on a Japanese sample, JTK output an assembly of better contiguity than those built from high-coverage HiFi+Hi-C. In the coming age of pan-genomics, JTK would complement the reference-based phasing method to assemble the difficult-to-assemble but medically important regions. AVAILABILITY AND IMPLEMENTATION: JTK is available at https://github.com/ban-m/jtk, and the datasets are available at https://doi.org/10.5281/zenodo.7790310 or JGAS000580 in DDBJ.
Bansho Masutani, Yoshihiko Suzuki, Shinichi Morishita
Bioinform.2
2022 Accurate k-mer Classification Using Read Profiles
Yoshihiko Suzuki, Eugene W. Myers
WABI1