Associated Papers
Precision proteogenomics reveals pan-cancer impact of germline variants.
Martins Rodrigues F et al.
Cell, 2025
Recessive genetic contribution to congenital heart disease in 5,424 probands.
Dong W et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.
Wang LY et al.
Innovation (cambridge (mass.)), 2025
Integrating functional proteomics and next generation sequencing reveals potential therapeutic targets for Taiwanese breast cancer.
Ku WC et al.
Clinical Proteomics, 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
Genomic alteration discordance in the paired primary-recurrent ovarian cancers: based on the comprehensive genomic profiling (CGP) analysis.
Dong J et al.
Journal of Ovarian Research, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.
Yu H et al.
Frontiers in Oncology, 2022
Clinical Manifestations of Alport Syndrome-Diffuse Leiomyomatosis Patients With Contiguous Gene Deletions in COL4A6 and COL4A5.
Zhou X et al.
Frontiers in Medicine, 2021
Identification of germline and somatic mutations in pancreatic adenosquamous carcinoma using whole exome sequencing.
Ma H et al.
Cancer Biomarkers : Section a of Disease Markers, 2020
Characterizations of Gene Alterations in Melanoma Patients from Chinese Population.
Luo Y et al.
Biomed Research International, 2020
TAPES: A tool for assessment and prioritisation in exome studies.
Xavier A et al.
Plos Computational Biology, 2019
CharGer: clinical Characterization of Germline variants.
Scott AD et al.
Bioinformatics (oxford, England), 2019
Targeting HER2 in colorectal cancer: The landscape of amplification and short variant mutations in ERBB2 and ERBB3.
Ross JS et al.
Cancer, 2018
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
Kiel C et al.
Molecular Systems Biology, 2014
ESR1 ligand-binding domain mutations in hormone-resistant breast cancer.
Toy W et al.
Nature Genetics, 2013
MEK genomics in development and disease.
Bromberg-White JL et al.
Briefings in Functional Genomics, 2012