Accès ouvert
2026
preprint
OpenAlex
Johannes Hausmann, Franziska Lang, Özlem Muslu, Luis Kress et autres
Abstract Individualized cancer immunotherapies rely on tumor-specific T-cell antigens, often predicted from somatic mutations as neoantigens. For tumors with low mutational burden, mRNA transcript variants, including gene fusions and novel splice junctions, can serve as important alternative targets. A main challenge in …
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(code pays fourni par la source)
Accès ouvert
2026
article
OpenAlex
Özlem Muslu, Thomas Bukur, Pablo Riesgo-Ferreiro, Sameesh Kher et autres
BACKGROUND: Accurately identifying somatic variants from genomic sequencing is crucial for understanding and treating cancer. Previously, methods based on statistics and heuristics, as well as methods based on machine learning were proposed for somatic single nucleotide variant (SNV) calling from matched tumor-normal …
de
(code pays fourni par la source)
Accès ouvert
2026
article
OpenAlex
Özlem Muslu, Thomas Bukur, Pablo Riesgo-Ferreiro, Sameesh Kher et autres
Additional file 2. Supplementary Figures (Fig. S1-S16).
de
(code pays fourni par la source)
Accès ouvert
2026
other
OpenAlex
Özlem Muslu, Thomas Bukur, Pablo Riesgo-Ferreiro, Sameesh Kher et autres
Abstract Background Accurately identifying somatic variants from genomic sequencing is crucial for understanding and treating cancer. Previously, methods based on statistics and heuristics, as well as methods based on machine learning were proposed for somatic single nucleotide variant (SNV) calling from matched …
de
(code pays fourni par la source)
Accès ouvert
2026
dataset
OpenAlex
Özlem Muslu, Thomas Bukur, Pablo Riesgo-Ferreiro, Sameesh Kher et autres
Additional file 1. Supplementary Tables (Table S1-S13).
de
(code pays fourni par la source)
Accès ouvert
2026
dataset
OpenAlex
Özlem Muslu, Thomas Bukur, Pablo Riesgo-Ferreiro, Sameesh Kher et autres
Additional file 1. Supplementary Tables (Table S1-S13).
de
(code pays fourni par la source)
Accès ouvert
2026
other
OpenAlex
Özlem Muslu, Thomas Bukur, Pablo Riesgo-Ferreiro, Sameesh Kher et autres
Abstract Background Accurately identifying somatic variants from genomic sequencing is crucial for understanding and treating cancer. Previously, methods based on statistics and heuristics, as well as methods based on machine learning were proposed for somatic single nucleotide variant (SNV) calling from matched …
de
(code pays fourni par la source)
Accès ouvert
2026
article
OpenAlex
Özlem Muslu, Thomas Bukur, Pablo Riesgo-Ferreiro, Sameesh Kher et autres
Additional file 2. Supplementary Figures (Fig. S1-S16).
de
(code pays fourni par la source)
Accès ouvert
2026
software
OpenAlex
Özlem Muslu, Sameesh Kher, Luis Kress, Shaya Akbarinejad et autres
VariantMedium is a deep learning-based somatic variant caller for matched tumor-normal short-read sequencing data. It integrates machine learning–based filtering and 3D convolutional neural networks to classify candidate sites as somatic, germline, or non-variant, with high sensitivity and robustness across diverse genomic contexts …
de
(code pays fourni par la source)
Accès ouvert
2026
software
OpenAlex
Özlem Muslu, Sameesh Kher, Luis Kress, Shaya Akbarinejad et autres
VariantMedium is a deep learning-based somatic variant caller for matched tumor-normal short-read sequencing data. It integrates machine learning–based filtering and 3D convolutional neural networks to classify candidate sites as somatic, germline, or non-variant, with high sensitivity and robustness across diverse genomic contexts …
de
(code pays fourni par la source)
Accès ouvert
2026
preprint
OpenAlex
Thomas Mulvaney, Ben Carillo, David Koppstein, Manar Abdalazem et autres
Reproducible, scalable, and portable data-analysis pipelines are now a fundamental prerequisite for modern data analysis research across all research domains. Snakemake has emerged as one of the most widely adopted systems for declarative pipeline orchestration, combining a concise Python-based DSL with native …
Accès ouvert
2026
preprint
OpenAlex
Manar Abdalazem, Felix Bartusch, Ed Bennett, Oliver But et autres
Reproducible, scalable, and portable data-analysis pipelines are now a fundamental prerequisite for modern data analysis research across all research domains. Snakemake has emerged as one of the most widely adopted systems for declarative pipeline orchestration, combining a concise Python-based DSL with native …