Associated Papers
Integrating evidence from protein domains to identify cancer driver mutations.
Ostroverkhova D et al.
Protein Science : a Publication of the Protein Society, 2026
Discovery of Novel RASGRF2 Fusions as a Therapeutic Target in Lung Adenocarcinoma of Never or Light Smokers.
Terashima Y et al.
Cancer Science, 2025
Genomic Landscapes of Early-Onset Versus Average-Onset Colorectal Cancer Populations.
Storandt MH et al.
Cancers, 2025
VarMeter2: An enhanced structure-based method for predicting pathogenic missense variants through Mahalanobis distance.
Ohno S et al.
Computational and Structural Biotechnology Journal, 2025
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.
Malmgren H et al.
Frontiers in Genetics, 2025
Targeting Non-V600 Mutations in BRAF: A Single Institution Retrospective Analysis and Review of the Literature.
Chaudhary HA et al.
Drugs in R&d, 2024
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Padigepati SR et al.
Human Genetics, 2024
Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome).
Wilson GN et al.
Current Issues in Molecular Biology, 2024
The Clinical, Genomic, and Transcriptomic Landscape of BRAF Mutant Cancers.
Kazandjian S et al.
Cancers, 2024
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
High prevalence of unusual KRAS, NRAS, and BRAF mutations in POLE-hypermutated colorectal cancers.
Favre L et al.
Molecular Oncology, 2022
Genomic Landscape, Clinical Features and Outcomes of Non-Small Cell Lung Cancer Patients Harboring BRAF Alterations of Distinct Functional Classes.
Di Federico A et al.
Cancers, 2022
Detection of oncogenic and clinically actionable mutations in cancer genomes critically depends on variant calling tools.
Garcia-Prieto CA et al.
Bioinformatics (oxford, England), 2022
Spectrum of BRAF Aberrations and Its Potential Clinical Implications: Insights From Integrative Pan-Cancer Analysis.
Yi Q et al.
Frontiers in Bioengineering and Biotechnology, 2022
Clinical and molecular spectra of BRAF-associated RASopathy.
Lee Y et al.
Journal of Human Genetics, 2021
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Clinical Implication of Concordant or Discordant Genomic Profiling between Primary and Matched Metastatic Tissues in Patients with Colorectal Cancer.
Choi JY et al.
Cancer Research and Treatment, 2020
Response to Anti-EGFR Therapy in Patients with BRAF non-V600-Mutant Metastatic Colorectal Cancer.
Yaeger R et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Engineering and Functional Characterization of Fusion Genes Identifies Novel Oncogenic Drivers of Cancer.
Lu H et al.
Cancer Research, 2017
Bioinformatics Approach for Prediction of Functional Coding/Noncoding Simple Polymorphisms (SNPs/Indels) in Human BRAF Gene.
Hassan MM et al.
Advances in Bioinformatics, 2016
HER2 activating mutations are targets for colorectal cancer treatment.
Kavuri SM et al.
Cancer Discovery, 2015
Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.
Martelotto LG et al.
Genome Biology, 2014
MLH1-silenced and non-silenced subgroups of hypermutated colorectal carcinomas have distinct mutational landscapes.
Donehower LA et al.
The Journal of Pathology, 2013
The genetic heterogeneity and mutational burden of engineered melanomas in zebrafish models.
Yen J et al.
Genome Biology, 2013