whole-exome-sequencing

Documents about whole-exome-sequencing

• Whole-exome Sequencing in Childhood Obesity#1126823ClinicalTrials.gov
• 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)
• Molecular Diagnosis of Syndromic or Isolated Severe Intellectual Disability Using Whole Exome Sequencing : a Pilot Study#1437989ClinicalTrials.gov
• Evaluating Prenatal Exome Sequencing Study#891605ClinicalTrials.gov
• A Study of Consent Forms for Whole Exome and Whole Genome Sequencing#1139404ClinicalTrials.gov
• Whole Exome and Whole Genome Sequencing for Genotyping of Inherited and Congenital Eye Conditions#803474ClinicalTrials.gov
• Whole Exome Sequencing and Whole Genome Sequencing for Nonimmune Fetal/Neonatal Hydrops#1113806ClinicalTrials.gov
• Genome Sequencing in the Intensive Care Unit Population#1096276ClinicalTrials.gov
• Whole Exome Sequencing in Prenatal Diagnosis of Agenesis of the Corpus Callosum#1045315ClinicalTrials.gov
• Whole Exome Sequencing of Familial and Pediatric Forms of Vasculitis#1408418ClinicalTrials.gov
• Whole-exome sequencing of pediatric acute lymphoblastic leukemia.#1189100Lund University Publications
• 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)
• Whole-Exome Sequencing (WES) of Cancer Patients#1164795ClinicalTrials.gov
• PREcision Diagnostics in Rare genetIC Diseases and Tumors - Long Read Sequencing#827963ClinicalTrials.gov
• Clinical Utility of Pediatric Whole Exome Sequencing#1228809ClinicalTrials.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
• A combined study of whole-exome sequencing and structural neuroimaging markers in bipolar disorder.#1415633NCBI PubMed Central
• 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)
• A Multi-omics Study of Epithelial Ovarian Cancer#1103462ClinicalTrials.gov
• Whole-Exome Sequencing in a Consanguinity-Enriched South Indian Retinitis Pigmentosa Cohort: Diagnostic Yield and Molecular Spectrum.#662766NCBI PubMed Central
• Clinical and Population-Specific Insights Into Inherited Retinal Dystrophies From Whole-Exome Sequencing of the Polish Cohort.#1236474NCBI PubMed Central
• NGS-Based Genetic Approach to Identify Rare Lysosomal Storage Disorders in Patients With Neurological Manifestations#1246543ClinicalTrials.gov
• 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 reveals novel and previously reported variants in genes linked to white matter pathology in neurodevelopmental disorders.#1204457NCBI PubMed Central
• 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
• Novel Alzheimer's disease-associated variants and genetic interactions identified from UK biobank whole-exome sequencing data using IBI-DT.#1080644NCBI PubMed Central
• Consensus-based detection of aetiologic copy number variants for syndromic orofacial clefts utilising whole exome sequencing of case parent trios.#1220925NCBI PubMed Central
• Altered keratinization and vitamin D metabolism may be key pathogenetic pathways in syndromic hidradenitis suppurativa: a novel whole exome sequencing approach#1329190HAL (France)
• 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
• Whole Exome Sequencing in Finding Causative Variants in Germline DNA Samples From Patients With Peripheral Neuropathy Receiving Paclitaxel for Breast Cancer#1310546ClinicalTrials.gov
• Short report: Targeted analysis of whole exome sequencing data in Indian cryptogenic stroke patients#1120010Europe PMC
• Genetic Investigations in Children With Developmental and Epileptic Encephalopathies in Ho Chi Minh City, Vietnam#1452483ClinicalTrials.gov
• Developmental Trajectory of Gene and Life Participation in Children With Developmental Delay#1282214ClinicalTrials.gov
• 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