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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 -
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 -
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 -
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 -
To be greedy, or not to be — That is the question for Population Based Training variants0citations
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Comparison of two controlled short arc variants for WAAM of mild steel parts2026 Proceedings of the Institution of Mechanical Engineers Part L Journal of Materials Design and Applications article Engineering Additive Manufacturing Materials and Processes
Max Dominik Mierzwa, P. J. Kellerwessel, Peter Dewald, Konrad Mäde, Rahul Sharma, Nils Rittich, +2 more
0citations -
Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations2023 PLoS ONE article Biochemistry, Genetics and Molecular Biology Sexual Differentiation and Disorders Open access
Idoia Martinez de la Piscina, Chrysanthi Kouri, Josu Aurrekoetxea, Mirian Sanchez, Rawda Naamneh Elzenaty, Kay‐Sara Sauter, +12 more
11citations -
Auto-encoder-based algorithm for the selection of key characteristics for products to reduce inspection efforts2022 International Journal of Quality & Reliability Management article Engineering Fault Detection and Control Systems
Jonathan Greipel, Regina M. Frank, Meike Huber, Ansgar Steland, Robert Heinrich Schmitt
2citations