Associated Papers
Alignment-free unique molecular identifier clustering suppresses sequencing errors for accurate detection of low-frequency DNA variants.
Yu F et al.
Briefings in Bioinformatics, 2025
Molecular Determinants of the Human Retinal Pigment Epithelium Cell Fate and Potential Pharmacogenomic Targets for Precision Medicine.
Zibetti C
International Journal of Molecular Sciences, 2025
Associations of KRAS Mutations and Clinical Characteristics of Colorectal Cancer Patients in Indonesia.
Rudiman R et al.
Asian Pacific Journal of Cancer Prevention : Apjcp, 2024
A mutation in CCDC91, Homo sapiens coiled-coil domain containing 91 protein, cause autosomal-dominant acrokeratoelastoidosis.
Zhu Y et al.
European Journal of Human Genetics : Ejhg, 2024
Association of uncertain significance genetic variants with myocardial mechanics and morphometrics in patients with nonischemic dilated cardiomyopathy.
Mėlinytė-Ankudavičė K et al.
Bmc Cardiovascular Disorders, 2024
PTEN-induced kinase 1 gene single-nucleotide variants as biomarkers in adjuvant chemotherapy for colorectal cancer: a retrospective study.
Mihara Y et al.
Bmc Gastroenterology, 2023
All-CLL: A Capture-based Next-generation Sequencing Panel for the Molecular Characterization of Chronic Lymphocytic Leukemia.
López-Oreja I et al.
Hemasphere, 2023
Metastasising ameloblastoma or ameloblastic carcinoma? A case report with mutation analyses.
Hurník P et al.
Bmc Oral Health, 2023
Clinicopathological Characteristics and Mutational Landscape of APC, HOXB13, and KRAS among Rwandan Patients with Colorectal Cancer.
Manirakiza F et al.
Current Issues in Molecular Biology, 2023
Spectrum of Rare and Common Genetic Variants in Arrhythmogenic Cardiomyopathy Patients.
Lippi M et al.
Biomolecules, 2022
Single-cell transcriptomic analysis of the tumor ecosystems underlying initiation and progression of papillary thyroid carcinoma.
Pu W et al.
Nature Communications, 2021
Germline mutation in the TP53 gene in uveal melanoma.
Hajkova N et al.
Scientific Reports, 2018
Novel recurrently mutated genes and a prognostic mutation signature in colorectal cancer.
Yu J et al.
Gut, 2015
No mutation in RAS-MAPK pathway genes in 30 patients with Kabuki syndrome.
Kuniba H et al.
American Journal of Medical Genetics. Part A, 2008
KRAS Analysis in 34 Noonan Syndrome Patients without PTPN11 Mutation.
Yamamoto K et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2007