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Mehmet Alper Yilmaz

dblp:424/4653 · DBLP profile ↗
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1ranked-venue papers
1as first author
1since 2021 · last 2025
—ORCID · none

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

Applied, interdisciplinary, general and emerging computing · 1 · 1 first-author · 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 5, each with the papers that count most for it

TopicWeightPapersLastEvidence papers
Bioinformatics and computational biology › cancer genomics › copy number analysis
copy number variation detection
0.912025
LYCEUM: learning to call copy number variants on low-coverage ancient genomes · Bioinform. 2025
Bioinformatics and computational biology
genomics
0.912025
LYCEUM: learning to call copy number variants on low-coverage ancient genomes · Bioinform. 2025
Bioinformatics and computational biology › genomics › structural variation
structural variant detection
0.912025
LYCEUM: learning to call copy number variants on low-coverage ancient genomes · Bioinform. 2025
Bioinformatics and computational biology › molecular evolution › evolutionary bioinformatics
ancient DNA analysis
0.312025
LYCEUM: learning to call copy number variants on low-coverage ancient genomes · Bioinform. 2025

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

read-depth signal · 0.9pre-training · 0.9machine learning · 0.9fine-tuning · 0.9
YearPublicationVenuePosition
2025 LYCEUM: learning to call copy number variants on low-coverage ancient genomes
abstract
MOTIVATION: Copy number variants (CNVs) are pivotal in driving phenotypic variation that facilitates species adaptation. They are significant contributors to various disorders, making ancient genomes crucial for uncovering the genetic origins of disease susceptibility across populations. However, detecting CNVs in ancient DNA (aDNA) samples poses substantial challenges due to several factors: (i) aDNA is often highly degraded; (ii) contamination from microbial DNA and DNA from closely related species introduces additional noise into sequencing data; and finally, (iii) the typically low-coverage of aDNA renders accurate CNV detection particularly difficult. Conventional CNV calling algorithms, which are optimized for high-coverage read-depth signals, underperform under such conditions. RESULTS: To address these limitations, we introduce LYCEUM, the first machine learning-based CNV caller for aDNA. To overcome challenges related to data quality and scarcity, we employ a two-step training strategy. First, the model is pre-trained on whole genome sequencing data from the 1000 Genomes Project, teaching it CNV-calling capabilities similar to conventional methods. Next, the model is fine-tuned using high-confidence CNV calls derived from only a few existing high-coverage aDNA samples. During this stage, the model adapts to making CNV calls based on the downsampled read depth signals of the same aDNA samples. LYCEUM achieves accurate detection of CNVs even in typically low-coverage ancient genomes. We also observe that the segmental deletion calls made by LYCEUM show correlation with the demographic history of the samples and exhibit patterns of negative selection inline with natural selection. AVAILABILITY AND IMPLEMENTATION: LYCEUM is available at https://github.com/ciceklab/LYCEUM.
Mehmet Alper Yilmaz, Ahmet Arda Ceylan, Gun Kaynar, A. Ercüment Çiçek
Bioinform.1