Papers matching “sequence classification” 243
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Experimental Mis-Splicing Assessment and ACMG/AMP-Guided Classification of 47 ATM Splice-Site Variants2026 International Journal of Molecular Sciences article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Inés Llinares‐Burguet, Lara Sanoguera‐Miralles, Elena Bueno Martínez, Ada Esteban‐Sánchez, Daniel Romano-Medina, Lobna Ramadane‐Morchadi, +7 more
1citations -
Yield and costs of molecular diagnostics on thyroid cytology slides in the Netherlands, adapting the Bethesda classification2021 Endocrinology Diabetes & Metabolism article Medicine Thyroid Cancer Diagnosis and Treatment Open access
Mehtap Derya Aydemirli, Marieke Snel, Tom van Wezel, Dina Ruano, Christianne M. H. Obbink, Wilbert B. van den Hout, +2 more
12citations -
Concrete printing with textile reinforcement: Approaches, classification, and testing2026 Cement and Concrete Research article Engineering Innovations in Concrete and Construction Materials Open access
Viktor Mechtcherine, Shravan Muthukrishnan, Egor Ivaniuk, Yiwei Weng, Jie Yu, Fei Teng, +7 more
3citations -
A new classification of Cyperaceae (Poales) supported by phylogenomic data2021 Journal of Systematics and Evolution article Agricultural and Biological Sciences Botany, Ecology, and Taxonomy Studies Open access
Isabel Larridon, Alexandre Rizzo Zuntini, Étienne Léveillé‐Bourret, Russell L. Barrett, Julian R. Starr, Abraham Muthama Muasya, +27 more
129citations -
Classification of several demosponge (Demospongiae, Porifera) taxa re-evaluated with DNA barcodes of type (and other) specimens2026 Zootaxa article Biochemistry, Genetics and Molecular Biology Marine Sponges and Natural Products Open access
Dirk Erpenbeck, Oliver Voigt, ANDREAS MÖX, Adrian Galitz, SEBASTIAN GÖLITZ, Carsten Lüter, +5 more
0citations -
Taxonomic classification and abundance estimation using 16S and WGS—A comparison using controlled reference samples2020 Forensic Science International Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access
Lusine Khachatryan, Rick H. de Leeuw, Margriet E. M. Kraakman, Nikolaos Pappas, Marije te Raa, Hailiang Mei, +2 more
52citations -
Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel2021 Human Mutation article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Petros Kountouris, Coralea Stephanou, Carsten Werner Lederer, Joanne Traeger‐Synodinos, Celeste Bento, Cornelis L. Harteveld, +8 more
39citations -
Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants2023 Clinical Chemistry article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Lara Sanoguera‐Miralles, Alberto Valenzuela‐Palomo, Elena Bueno Martínez, Ada Esteban‐Sánchez, Víctor Lorca, Inés Llinares‐Burguet, +8 more
14citations -
Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification2024 medRxiv preprint Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Maria Zanti, Denise G O'Mahony, Michael T. Parsons, Leila Dorling, Joe Dennis, Nicholas James Boddicker, +91 more
3citations -
scAGG: Sample-level embedding and classification of Alzheimer's disease from single-nucleus data2025 Computational and Structural Biotechnology Journal article Biochemistry, Genetics and Molecular Biology Single-cell and spatial transcriptomics Open access
Timo Verlaan, Gerard A. Bouland, Ahmed Essam Mahfouz, Marcel J. T. Reinders
2citations -
Minigene‐based splicing analysis and ACMG / AMP ‐based tentative classification of 56 ATM variants2022 The Journal of Pathology article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Elena Bueno Martínez, Lara Sanoguera‐Miralles, Alberto Valenzuela‐Palomo, Ada Esteban‐Sánchez, Víctor Lorca, Inés Llinares‐Burguet, +9 more
23citations -
Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification2025 Nature Communications article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Maria Zanti, Denise G O'Mahony, Michael T. Parsons, Leila Dorling, Joe Dennis, Nicholas James Boddicker, +87 more
11citations -
EP10.02: Pathophysiology and intrauterine appearance of unusual causes of fetal acrania‐exencephaly‐anencephaly sequence2022 Ultrasound in Obstetrics and Gynecology conference-abstract Medicine Fetal and Pediatric Neurological Disorders Open access
Jan Weichert, Michael Gembicki, Amrei Welp, Jann Lennard Scharf, Christoph Dracopoulos, M. Krapp, +6 more
0citations -
Evaluation of Key Spatiotemporal Learners for Print Track Anomaly Classification Using Melt Pool Image Streams2023 arXiv (Cornell University) preprint Engineering Additive Manufacturing Materials and Processes Open access
Lynn Cherif, Mutahar Safdar, Guy Lamouche, Priti Wanjara, Padma Polash Paul, Gentry Wood, +3 more
0citations