whole-exome-sequencing

Documents about whole-exome-sequencing

• Precise Therapy for mCRPC Patients Through Whole Exome Sequencing(PTtWES)#899477ClinicalTrials.gov
• Genetic Architecture of Pediatric Cardiomyopathies Assessed by Whole‐Exome Sequencing: Insights Into Early‐Onset and Syndromic Forms#460869HAL (France)
• Evaluating Prenatal Exome Sequencing Study#891605ClinicalTrials.gov
• Whole Exome and Whole Genome Sequencing for Genotyping of Inherited and Congenital Eye Conditions#803474ClinicalTrials.gov
• Genetic counselors’ perspectives on perceived patient barriers to access and reimbursement for whole exome and genome sequencing in rare diseases#359008RUcore, Rutgers University Community Repository
• Whole Genome Trio Sequencing as a Standard Routine Test in Patients With Rare Diseases - "GENOME FIRST APPROACH"#993345ClinicalTrials.gov
• Novel SYNGAP1 Variant in an Adult Individual Affected by Intellectual Disability and Epilepsy: A Cold Case Solved through Whole-Exome Sequencing#274645IRIS
• WxS-QC - a quality control pipeline for human Whole-Genome and Whole Exome sequencing cohorts#367270Europe PMC
• Prenatal diagnosis of fetal structure anomalies using whole exome sequencing#441461Zenodo (CERN)
• PREcision Diagnostics in Rare genetIC Diseases and Tumors - Long Read Sequencing#827963ClinicalTrials.gov
• T-rex: standardized analysis of germline variants in whole-exome sequencing trios.#636390NCBI PubMed Central
• EXaCT-2: an augmented and customizable oncology-focused whole exome sequencing platform#657770Cornell eCommons
• Investigating the Contribution of Coding Variants in Alcohol Use Disorder Using Whole-Exome Sequencing Across Ancestries.#327041NCBI PubMed Central
• Contribution de la génétique dans l'arthrose#685097HAL (France)
• Whole-Exome Sequencing in a Consanguinity-Enriched South Indian Retinitis Pigmentosa Cohort: Diagnostic Yield and Molecular Spectrum.#662766NCBI PubMed Central
• Novel pathogenic variant in ARMC4 identified by whole exome sequencing in a Turkish family with primary ciliary dyskinesia.#297304NCBI PubMed Central
• Identification of De Novo Germline Mutations and Causal Genes for Neurological Diseases Using Trio‐Based Whole‐Exome Sequencing in a Turkish Population#260921EliScholar
• Whole Exome Sequencing in Finding Causative Variants in Germline DNA Samples From Patients With Hypertension Receiving Bevacizumab for Breast Cancer#121517ClinicalTrials.gov
• The diagnostic value of whole exome sequencing in male infertility patients - clinical data#260377Rīga Stradiņš University Institutional Repository Dataverse Dataverse OAI Archive
• Genetics of COVID-19 Susceptibility and Manifestations#833232ClinicalTrials.gov
• Identification Of Novel Mutations In Non-Syndromic Skeletal Mandibular Prognathism In Malay Subjects: Insights From Whole Exome Sequencing And Inheritance Pattern#190851USM Repository
• Exploratory plasma ctDNA genomic biomarkers identified by whole-exome sequencing and a novel bioinformatics pipeline in advanced driver-negative NSCLC.#449953NCBI PubMed Central
• Polygenic Risk Score to Predict Weight Loss Intervention in Children With Obesity#831817ClinicalTrials.gov
• eDiVA—Classification and prioritization of pathogenic variants for clinical diagnostics#322603HAL (France)
• Pembrolizumab and Paclitaxel in Hormone Receptor-positive, hyperMUTATted Metastatic Breast Cancer Identified by Whole exOme sequeNcing ('MUTATION2')#979345ClinicalTrials.gov
• Early-Onset Oral Tongue Squamous Cell Carcinoma in the Absence of Traditional Risk Factors: A Case Report with Whole-Exome Sequencing Analysis.#236166NCBI PubMed Central
• De novo KCNA6 variants with attenuated KV 1.6 channel deactivation in patients with epilepsy#284382HAL (France)
• The Use of Molecular Radiogenomics in Non-small Cell Lung Cancer#842142ClinicalTrials.gov
• A de novo Loss-of-function Variant in RAPGEF6 Supports its Role in Neuropsychiatric Disorders#273292Europe PMC
• Genetic Background of Patients With Low Von Willebrand Factor Levels#803883ClinicalTrials.gov
• In-depth Genetic and Molecular Characterization of Unilateral Coexisting Adrenal Cortical Adenoma and Carcinoma in the Context of MEN1 Syndrome#250220HAL (France)
• Exploring cerebral small vessel disease signatures in familial Parkinson's disease#784523Europe PMC
• A Whole-Exome Sequencing-Based Exploration of Chronic Kidney Disease of Unknown Etiology (CKDu) in an Endemic Population in Sri Lanka#205517Europe PMC
• A Novel BIRC6 Variant Impairs Apoptotic Regulation in Familial Premature Ovarian Insufficiency: Functional Validation in a CRISPR/Cas9 Zebrafish Model#256601İzmir Yüksek Teknoloji Enstitüsü
• Pathway Enrichment Analysis of Whole-Exome Sequencing Data from Formalin-Fixed, Paraffin-Embedded Enucleated Eyes with Retinoblastoma and Choroidal Malignant Melanoma#295533OKAYAMA UNIVERSITY SCIENTIFIC ACHIEVEMENT REPOSITORY
• Clinical Benefit of Using Molecular Profiling to Determine an Individualized Treatment Plan for Patients With High Grade Glioma#866445ClinicalTrials.gov