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Juniper Ada Lake

dblp:425/2838 · DBLP profile ↗
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1ranked-venue papers
0as first author
1since 2021 · last 2025
0000-0001-7628-5645ORCID · reported

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 · 87% Medical and health informatics · 13%

Topics — the 3 heaviest of 3, each with the papers that count most for it

TopicWeightPapersLastEvidence papers
Bioinformatics and computational biology
genomics
0.912025
Sawfish: improving long-read structural variant discovery and genotyping with local haplotype modeling · Bioinform. 2025
Bioinformatics and computational biology › genomics › structural variation
structural variant detection
0.912025
Sawfish: improving long-read structural variant discovery and genotyping with local haplotype modeling · Bioinform. 2025
Medical and health informatics
clinical genomics
0.312025
Sawfish: improving long-read structural variant discovery and genotyping with local haplotype modeling · Bioinform. 2025

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

long-read sequencing · 0.9local haplotype modeling · 0.9
YearPublicationVenuePosition
2025 Sawfish: improving long-read structural variant discovery and genotyping with local haplotype modeling
abstract
MOTIVATION: Structural variants (SVs) play an important role in evolutionary and functional genomics but are challenging to characterize. High-accuracy, long-read sequencing can substantially improve SV characterization when coupled with effective calling methods. While state-of-the-art long-read SV callers are highly accurate, further improvements are achievable by systematically modeling local haplotypes during SV discovery and genotyping. RESULTS: We describe sawfish, an SV caller for mapped high-quality long reads incorporating systematic SV haplotype modeling to improve accuracy and resolution. Assessment against the draft Genome in a Bottle (GIAB) SV benchmark from the T2T-HG002-Q100 diploid assembly shows that sawfish has the highest accuracy among state-of-the-art long-read SV callers across every tested SV size group. Additionally, sawfish maintains the highest accuracy at every tested depth level from 10- to 32-fold coverage, such that other callers required at least 30-fold coverage to match sawfish accuracy at 15-fold coverage. Sawfish also shows the highest accuracy in the GIAB challenging medically relevant genes benchmark, demonstrating improvements in both comprehensive and medically relevant contexts.When joint-genotyping seven samples from CEPH-1463, sawfish has over 9000 more pedigree-concordant calls than other state-of-the-art SV callers, with the highest proportion of concordant SVs (81%). Sawfish's quality model enables selection for an even higher proportion of concordant SVs (88%), while still calling nearly 5000 more pedigree-concordant SVs than other callers. These results demonstrate that sawfish improves on the state-of-the-art for long-read SV calling accuracy across both individual and joint-sample analyses. AVAILABILITY AND IMPLEMENTATION: Sawfish source code, pre-compiled Linux binaries, and documentation are released on GitHub: https://github.com/PacificBiosciences/sawfish.
Christopher T. Saunders, James M. Holt, Daniel N. Baker, Juniper Ada Lake, Jonathan R. Belyeu, Zev N. Kronenberg, William J. Rowell, Michael A. Eberle
Bioinform.4