Papers matching “single nucleotide variants” 24
Not finding it? Sign in to also search OpenAlex live.
-
A single-nucleotide change in the Kozak sequence enhances protein expression2026 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology RNA and protein synthesis mechanisms Open access
Renzo A. Knol, Tahmina Fariaby, Eveline A. de Vlieger, Alexander Kros, Bram Slütter
0citations -
SECEDO: SNV-based subclone detection using ultra-low coverage single-cell DNA sequencing2021 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Cancer Genomics and Diagnostics Open access
Hana Rozhoňová, Daniel Danciu, Stefan G. Stark, Gunnar Rätsch, André Kahles, Kjong-Van Lehmann
1citations -
Validation of the BOADICEA Model in a Prospective Cohort of BRCA1/2 Pathogenic Variant Carriers2024 medRxiv preprint Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Xin Yang, Thea M. Mooij, Goska Leslie, Lorenzo Ficorella, Nadine Andrieu, Karin Kast, +34 more
2citations -
PLCG2 variant p.P522R - associated with healthy aging- may reduce the aging of the human immune system2022 Research Square preprint Biochemistry, Genetics and Molecular Biology Genetics, Aging, and Longevity in Model Organisms Open access
Annieck M. Diks, Cristina Teodósio, Bas de Mooij, Rick J. Groenland, Brigitta A. E. Naber, Inge F. de Laat, +8 more
0citations -
A stepwise short- and long-read whole genome sequencing strategy resolves previous genetically unresolved inherited retinal disease cases2026 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Kim Rodenburg, Stefanida Shliaga, Lonneke Haer‐Wigman, Anneke T. Vulto‐van Silfhout, Erica G. M. Boonen, Lara K. Holtes, +24 more
0citations -
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 -
Cell-type, single-cell, and spatial signatures of brain-region specific splicing in postnatal development2020 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access
Anoushka Joglekar, Andrey D. Prjibelski, Ahmed Essam Mahfouz, Paul G. Collier, Susan Lin, Anna Katharina Schlusche, +22 more
5citations -
Polygenic Risk Modelling for Prediction of Epithelial Ovarian Cancer Risk2020 medRxiv preprint Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Eileen Dareng, Jonathan P. Tyrer, Daniel R. Barnes, Michelle R. Jones, Xin Yang, Katja K.H. Aben, +86 more
3citations -
PAV-spotter: using signal cross-correlations to identify Presence/Absence Variation in target capture data2024 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access
Manon Chantal de Visser, Chris van der Ploeg, Milena Cvijanović, Tijana Z. Vučić, Anagnostis Theodoropoulos, Ben Wielstra
4citations -
Whole genome sequencing of endometrial cancer identifies novel subgroups, drivers, and actionable alterations2026 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Cancer Genomics and Diagnostics Open access
Sebastian Meyer, Ben Kinnersley, Katarzyna Kedzierska, Ignacio Soriano, Eszter Lakatos, Claudia Arnedo-Pac, +26 more
0citations -
T cell correction pipeline for Inborn Errors of Immunity2024 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology CRISPR and Genetic Engineering Open access
Katariina Mamia, Solrun Kolbeinsdottir, Zhuokun Li, Kornel Labun, Anna Zofia Komisarczuk, Salla Keskitalo, +22 more
1citations -
Multi-omics profiling, in vitro and in vivo enhancer assays dissect the cis -regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy2022 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Stijn Van de Sompele, Kent W. Small, Munevver Burcu Cicekdal, Víctor López-Soriano, Eva D’haene, Fadi S. Shaya, +23 more
3citations -
Elevated Plasma Complement Factors in CRB1 -associated Inherited Retinal Dystrophies2023 medRxiv preprint Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Lude Moekotte, Joke H. de Boer, Sanne Hiddingh, Aafke de Ligt, Xuan‐Thanh‐An Nguyen, Carel B. Hoyng, +27 more
0citations -
Genome-Wide Interaction Analysis with DASH Diet Score Identified Novel Loci for Systolic Blood Pressure2023 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Mélanie Guirette, Jessie Jie Lan, Nicola Mary McKeown, Michael R. Brown, Han Chen, Paul S. de Vries, +40 more
1citations -
The association between lymphocyte mitochondrial DNA abundance and Stroke: a combination of multivariable-adjusted survival and mendelian randomization analyses2021 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Leon G. Martens, Jiao Min Luo, Marieke J.H. Wermer, Ko Willems van Dijk, Sara Hägg, Felix Graßmann, +2 more
0citations
24 results