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Systematic large-scale application of ClinGen InSiGHT APC -specific ACMG/AMP variant classification criteria substantially alleviates the burden of variants of uncertain significance in ClinVar and LOVD databases2024 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Xiaoyu Yin, Marcy E. Richardson, Andreas Laner, Xuemei Shi, Elisabet Ognedal, Valeria Vasta, +26 more
0citations -
Variant Calling in the Dark Genome: Benchmarking SNV Calls in the Flanks of Structural Variants2026 Genomics Proteomics & Bioinformatics article Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access
Ningxin Dang, Peng Jia, Jiadong Lin, Yutong Xie, Yongyong Kang, Z K Li, +2 more
0citations -
Verification of an Algorithm for Detection of Unstable Haemoglobin Variants With Sysmex XN ‐10 Yielded a High Degree of False Positives2025 International Journal of Laboratory Hematology article Medicine Hemoglobinopathies and Related Disorders
Madeleen Bosma, Richard M. Noordervliet, Mercedeh Tajdar, Christine Van Laer
0citations -
Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools2025 Human Genetics and Genomics Advances article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Mark Drost, Jordy Dekker, Federico Ferraro, Esmee Kasteleijn, Hannie Douben, Leontine van Unen, +42 more
7citations -
Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS2024 The American Journal of Human Genetics article Medicine Genetic factors in colorectal cancer Open access
Xiaoyu Yin, Marcy E. Richardson, Andreas Laner, Xuemei Shi, Elisabet Ognedal, Valeria Vasta, +26 more
17citations -
Mako: A Graph-Based Pattern Growth Approach to Detect Complex Structural Variants2021 Genomics Proteomics & Bioinformatics article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Jiadong Lin, Xiaofei Yang, Walter A. Kosters, Tun Xu, Yanyan Jia, Songbo Wang, +44 more
9citations -
Mako: a graph-based pattern growth approach to detect complex structural variants2021 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Jiadong Lin, Xiaofei Yang, Walter A. Kosters, Tun Xu, Yanyan Jia, Songbo Wang, +8 more
1citations -
Utilizing protein structure graph embeddings to predict the pathogenicity of missense variants2025 NAR Genomics and Bioinformatics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Martin Danner, Matthias Begemann, Miriam Elbracht, Ingo Kurth, Jeremias Krause
2citations -
Utilizing protein structure graph embeddings to predict the pathogenicity of missense variants2024 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Martin Danner, Matthias Begemann, Miriam Elbracht, Ingo Kurth, Jeremias Krause
0citations -
PiS and PiS-plus alleles. The importance of phasing gene variants in Alpha-1 Antitrypsin Deficiency2020 conference-abstract Biochemistry, Genetics and Molecular Biology Protease and Inhibitor Mechanisms
Nerea Matamala, Gema Gómez‐Mariano, José Antonio Pérez Pérez, Beatriz Baladrón, María Torres‐Durán, Francisco Javier Michel, +7 more
0citations -
The Importance of Landscape Features for Performance Prediction of Modular CMA-ES Variants2022 arXiv (Cornell University) preprint Computer Science Metaheuristic Optimization Algorithms Research Open access
Ana Kostovska, Diederick Vermetten, Sašo Džeroski, Carola Doerr, Peter Korošec, Tome Eftimov
1citations -
The importance of landscape features for performance prediction of modular CMA-ES variants2022 Genetic and Evolutionary Computation Conference (GECCO) conference-paper Computer Science Metaheuristic Optimization Algorithms Research Open access
Ana Kostovska, Diederick Vermetten, Sašo Džeroski, Carola Doerr, Peter Korošec, Tome Eftimov
15citations -
Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant2021 European Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Elke de Boer, Burcu Yaldız, Anne‐Sophie Denommé‐Pichon, Leslie Matalonga, Steven Laurie, Wouter Steyaert, +67 more
3citations -
Breast cancer risks associated with missense variants in breast cancer susceptibility genes2022 Genome Medicine article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Leila Dorling, Sara Carvalho, Jamie Allen, Michael T. Parsons, Cristina Fortuño, Anna González‐Neira, +90 more
60citations -
Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next study2025 EBioMedicine article Biochemistry, Genetics and Molecular Biology Sexual Differentiation and Disorders Open access
Chrysanthi Kouri, Idoia Martinez de la Piscina, Rawda Naamneh Elzenaty, Grit Sommer, Kay‐Sara Sauter, Christa E. Flück, +66 more
9citations -
Breast cancer risks associated with missense variants in breast cancer susceptibility genes2021 medRxiv preprint Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Leila Dorling, Jamie Allen, Michael T. Parsons, Cristina Fortuño, Anna González‐Neira, Stephan Heijl, +89 more
5citations -
PS-AAS: Portfolio Selection for Automated Algorithm Selection in Black-Box Optimization - Reproducibility Repository2023 Zenodo (CERN European Organization for Nuclear Research) article Computer Science Metaheuristic Optimization Algorithms Research Open access
Ana Kostovska, Gjorgjina Cenikj, Diederick Vermetten, Anja Jankovič, Ana Nikolikj, Urban Škvorc, +3 more
0citations -
PS-AAS: Portfolio Selection for Automated Algorithm Selection in Black-Box Optimization2023 arXiv (Cornell University) preprint Computer Science Metaheuristic Optimization Algorithms Research Open access
Ana Kostovska, Gjorgjina Cenikj, Diederick Vermetten, Anja Jankovič, Ana Nikolikj, Urban Škvorc, +3 more
1citations