Results 1 to 10 of about 194,869 (207)

COSMIC: a curated database of somatic variants and clinical data for cancer [PDF]

Nucleic Acids Research, 2023
Abstract The Catalogue Of Somatic Mutations In Cancer (COSMIC), https://cancer.sanger.ac.uk/cosmic, is an expert-curated knowledgebase providing data on somatic variants in cancer, supported by a comprehensive suite of tools for interpreting genomic data, discerning the impact of somatic alterations on disease, and facilitating ...
Zbyslaw Sondka, Nidhi Bindal Dhir, Denise Carvalho-Silva, Steven Jupe, null Madhumita, Karen McLaren, Mike Starkey, Sari Ward, Jennifer Wilding, Madiha Ahmed, Joanna Argasinska, David Beare, Manpreet Singh Chawla, Stephen Duke, Ilaria Fasanella, Avirup Guha Neogi, Susan Haller, Balazs Hetenyi, Leonie Hodges, Alex Holmes, Rachel Lyne, Thomas Maurel, Sumodh Nair, Helder Pedro, Amaia Sangrador-Vegas, Helen Schuilenburg, Zoe Sheard, Siew Yit Yong, Jon Teague   +28 more
semanticscholar   +4 more sources

COSMIC Cancer Gene Census 3D database: understanding the impacts of mutations on cancer targets [PDF]

Briefings in Bioinformatics, 2021
AbstractMutations in hallmark genes are believed to be the main drivers of cancer progression. These mutations are reported in the Catalogue of Somatic Mutations in Cancer (COSMIC). Structural appreciation of where these mutations appear, in protein–protein interfaces, active sites or deoxyribonucleic acid (DNA) interfaces, and predicting the impacts ...
Alsulami, Ali F, Torres, Pedro HM, Moghul, Ismail, Arif, Sheikh Mohammed, Chaplin, Amanda K, Vedithi, Sundeep Chaitanya, Blundell, Tom L   +6 more
semanticscholar   +7 more sources

The COSMIC (Catalogue of Somatic Mutations in Cancer) database and website [PDF]

British Journal of Cancer, 2004
The discovery of mutations in cancer genes has advanced our understanding of cancer. These results are dispersed across the scientific literature and with the availability of the human genome sequence will continue to accrue. The COSMIC (Catalogue of Somatic Mutations in Cancer) database and website have been developed to store somatic mutation data in
Simon A. Forbes, Sally Bamford, Michael R. Stratton, Jody Clements, P A Futreal, Roger Pettett, Richard Wooster, Adrienne M. Flanagan, Jon W. Teague, Ahmet Dogan, Elisabeth Dawson   +10 more
semanticscholar   +5 more sources

A first RDF implementation of the COSMIC database on mutations in cancer

EMBnet.journal, 2012
Motivation and Objectives Within a living organism, genome and proteome variations may influence many molecular interactions and biochemical pathways, leading to deleterious effects in the proper activity of cells, tissues, and organs; ultimately, this may be the cause of many syndromes and diseases.
Zappa, Achille, Romano, Paolo
semanticscholar   +8 more sources

Predictive Modeling of Novel Somatic Mutation Impacts on Cancer Prognosis: A Machine Learning Approach Using the COSMIC Database [PDF]

medRxiv
Abstract Background Somatic mutations play a crucial role in cancer initiation, progression, and treatment response. While high-throughput sequencing has vastly expanded our understanding of cancer genomics, interpreting the functional impact of novel somatic mutations remains challenging. Machine learning approaches show promise in predicting mutation
Masab Mansoor
semanticscholar   +3 more sources

Machine learning based predictive model and genetic mutation landscape for high-grade colorectal neuroendocrine carcinoma: a SEER database analysis with external validation [PDF]

Frontiers in Oncology
BackgroundHigh-grade colorectal neuroendocrine carcinoma (HCNEC) is a rare but aggressive subset of neuroendocrine tumors. This study was designed to construct a risk model based on comprehensive clinical and mutational genomics data to facilitate ...
Ruixin Wu, Ruixin Wu, Sihao Chen, Sihao Chen, Yi He, Yi He, Ya Li, Song Mu, Aishun Jin, Aishun Jin   +9 more
doaj   +3 more sources

Spotlight on amino acid changing mutations in the JAK-STAT pathway: from disease-specific mutation to general mutation databases [PDF]

Scientific Reports
The JAK-STAT pathway is central to cytokine signaling and controls normal physiology and disease. Aberrant activation via mutations that change amino acids in proteins of the pathway can result in diseases.
Markus Hoffmann, Lothar Hennighausen
doaj   +2 more sources

Predicting high confidence ctDNA somatic variants with ensemble machine learning models [PDF]

Scientific Reports
Circulating tumour DNA (ctDNA) is a minimally invasive cancer biomarker that can be used to inform treatment of cancer patients. The utility of ctDNA as a cancer biomarker depends on the ability to accurately detect somatic variants associated with ...
Rugare Maruzani, Liam Brierley, Andrea Jorgensen, Anna Fowler   +3 more
doaj   +3 more sources

AlphaMissense Predictions and ClinVar Annotations: A Deep Learning Approach to Uveal Melanoma [PDF]

Ophthalmology Science
Objective: Uveal melanoma (UM) poses significant diagnostic and prognostic challenges due to its variable genetic landscape. We explore the use of a novel deep learning tool to assess the functional impact of genetic mutations in UM.
David J. Taylor Gonzalez, MD, Mak B. Djulbegovic, MD, MSc, Meghan Sharma, MD, MPH, Michael Antonietti, BS, Colin K. Kim, BS, Vladimir N. Uversky, PhD, DSc, Carol L. Karp, MD, Carol L. Shields, MD, Matthew W. Wilson, MD   +8 more
doaj   +2 more sources

Unravelling the instability of mutational signatures extraction via archetypal analysis

Frontiers in Genetics, 2023
The high cosine similarity between some single-base substitution mutational signatures and their characteristic flat profiles could suggest the presence of overfitting and mathematical artefacts.
Corrado Pancotti, Cesare Rollo, Giovanni Birolo, Silvia Benevenuta, Piero Fariselli, Tiziana Sanavia   +5 more
doaj   +1 more source