Associated Papers
Efficacy of immunotherapy in ARID1A-mutant solid tumors: a single-center retrospective study.
Zhou H et al.
Discover Oncology, 2024
Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.
Lei H et al.
Human Genomics, 2024
Novel, clinically relevant genomic patterns identified by comprehensive genomic profiling in ATRX-deficient IDH-wildtype adult high-grade gliomas.
Bedics G et al.
Scientific Reports, 2023
SpliceAI-10k calculator for the prediction of pseudoexonization, intron retention, and exon deletion.
Canson DM et al.
Bioinformatics (oxford, England), 2023
Integration of deep learning with Ramachandran plot molecular dynamics simulation for genetic variant classification.
Tam B et al.
Iscience, 2023
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 2023
Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome.
Scott A et al.
Genome Biology, 2022
Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.
White JA et al.
Cancer Research Communications, 2022
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.
Zhang L et al.
Journal of Medical Genetics, 2022
Disease variant prediction with deep generative models of evolutionary data.
Frazer J et al.
Nature, 2021
Prevalence and spectrum of germline cancer susceptibility gene variants and somatic second hits in colorectal cancer.
Liao H et al.
American Journal of Cancer Research, 2021
Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.
Thompson BA et al.
Frontiers in Genetics, 2020
A plugin for the Ensembl Variant Effect Predictor that uses MaxEntScan to predict variant spliceogenicity.
Shamsani J et al.
Bioinformatics (oxford, England), 2019
Outcomes of disease-specific next-generation sequencing gene panel testing in adolescents and young adults with colorectal cancer.
Mork ME et al.
Cancer Genetics, 2019
Characterizing Mutational Signatures in Human Cancer Cell Lines Reveals Episodic APOBEC Mutagenesis.
Petljak M et al.
Cell, 2019
Exome-wide analysis of bi-allelic alterations identifies a Lynch phenotype in The Cancer Genome Atlas.
Buckley AR et al.
Genome Medicine, 2018
Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?
Moles-Fernández A et al.
Frontiers in Genetics, 2018
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.
Thompson BA et al.
Human Mutation, 2013
Low-grade serous carcinomas of the ovary contain very few point mutations.
Jones S et al.
The Journal of Pathology, 2012
Characterization of new founder Alu-mediated rearrangements in MSH2 gene associated with a Lynch syndrome phenotype.
Pérez-Cabornero L et al.
Cancer Prevention Research (philadelphia, Pa.), 2011
A new strategy to screen MMR genes in Lynch Syndrome: HA-CAE, MLPA and RT-PCR.
Perez-Cabornero L et al.
European Journal of Cancer (oxford, England : 1990), 2009