Search clinical trials for: Whole genome sequencing and Genome-Epigenome-Phenome Associations

Total 200 results

Institut National de la Santé Et de la Recherche...
Commissariat A L'energie Atomique; Imagine Institute

Completed

Decoding Developmental Disorders in Humams (devodecode)

Genetic Diseases

France
Children's Hospital of Fudan University

Recruiting

Whole Genome Sequencing Versus Whole Exome Sequencing for Congenital Diarrhea and Enteropahty

Diarrhea, Infantile | Enteropathy

China
Thomas Jefferson University

Recruiting

Whole Exome Sequencing and Whole Genome Sequencing for Nonimmune Fetal/Neonatal Hydrops

Genetic Disorders | Nonimmune Fetal Hydrops | Nonimmune Hydrops in Neonate

United States
Boston Children's Hospital
National Eye Institute (NEI)

Recruiting

Genetic Studies of Strabismus, Nystagmus, and Associated Disorders

Strabismus | Nystagmus, Congenital

United States
Hospital Moinhos de Vento
Ministry of Health, Brazil

Recruiting

Onco-Genomas Brasil: Mapping Breast and Prostate Cancer in the Brazilian Public Health System

Breast Cancer | Prostate Cancer

Brazil
Boston Children's Hospital

Recruiting

Genetics of Epilepsy and Related Disorders

Epilepsy | Dravet Syndrome | Infantile Spasms | Epileptic Encephalopathy | Ohtahara Syndrome | Early Myoclonic Epileptic Encephalopathy | PCDH19-related Epilepsy and Related Conditions | KCNQ2-Related Epileptic Encephalopathy | Epilepsy of Infancy With Migrating Focal Seizures (Disorder)

United States
Charite University, Berlin, Germany
German Federal Ministry of Education and Research

Completed

Mutation Exploration in Non-acquired, Genetic Disorders and Its Impact on Health Economy and Life Quality (MENDEL)

Genetic Diseases

Germany
Kocaeli University

Completed

Gene Expression Profiles in Chronic Periodontitis

Chronic Periodontitis
Institut National de la Santé Et de la Recherche...
Hospices Civils de Lyon; University Hospital, Rouen; Centre Hospitalier Universitaire... and other collaborators

Active, not recruiting

Genome Sequencing Strategies for Genetics Diagnosis of Patients With Intellectual Disability (DEFIDIAG)

Intellectual Disability

France
Nantes University Hospital
AXA Assurances VIE Mutuelle

Not yet recruiting

Identification of Genetic Variants Associated With Unexpected Infant Death Syndrome (BIOMINRISK)

Sudden Infant Death | Sudden Unexplained Infant Death

France
University of Cambridge
Illumina, Inc.; Rosetrees Trust; Isaac Newton Trust; NIHR Cambridge Biomedical...

Recruiting

NeuralNET Cerebral Palsy Pilot Study

Cerebral Palsy

United Kingdom
Istituto Superiore di Sanità
Fondazione G.B. Bietti, IRCCS; Ospedale Pediatrico Bambin Gesù

Recruiting

Mechanisms of Inherited Retinal Dystrophies Using Whole Genome Sequencing and in Vitro and in Vivo Models

Retinitis Pigmentosa | Macular Dystrophy | Inherited Retinal Dystrophy

Italy
Children's Mercy Hospital Kansas City

Recruiting

United States Hypophosphatasia Molecular Research Center

Hypophosphatasia

United States
Nanfang Hospital of Southern Medical University
Ferring Pharmaceuticals

Unknown

Whole-genome Sequencing Study in Patients With Diminished Ovarian Reserve

Diminished Ovarian Reserve

China
Massachusetts General Hospital
Broad Institute; Laboratory for Molecular Medicine

Completed

Investigating the Feasibility and Implementation of Whole Genome Sequencing in Patients With Suspected Genetic Disorder

Genetic Predisposition to Disease | Hereditary Disease

United States
Seoul National University Hospital

Unknown

WGS of Korean Idiopathic Bronchiectasis (WGS_UNK_BE)

Cystic Fibrosis | Bronchiectasis Idiopathic | Primary Ciliary Dyskinesia

Korea, Republic of
Xinhua Hospital, Shanghai Jiao Tong University...

Unknown

Whole Genome Sequencing in the Detection of Rare Undiagnosed Genetic Diseases in Children in China

Intellectual Disability | Rare Diseases | Multiple Congenital Anomaly

China
Neuromed IRCCS

Not yet recruiting

Implementing a National Biobank of PD With WGS and Functional Assessment of Polygenic Inheritance by iPSC Technology

Parkinson Disease | REM Sleep Behavior Disorder

Italy
UMC Utrecht
Radboud University Medical Center; University Medical Center Groningen; Maastricht... and other collaborators

Recruiting

Glioblastoma Targeted Treatment Option Maximization by WGS (GLOW)

Glioblastoma

Netherlands
University of California, San Francisco
Johns Hopkins University; Eunice Kennedy Shriver National Institute of Child... and other collaborators

Enrolling by invitation

Uncovering the Etiologies of Non-immune Hydrops Fetalis

Non-Immune Hydrops Fetalis

United States
London School of Hygiene and Tropical Medicine
Wellcome Sanger Institute

Completed

Global Syphilis Sequencing

Syphilis

United Kingdom
Illumina, Inc.

Completed

NeuroSeq: A Prospective Trial to Evaluate the Diagnostic Yield of Whole Genome Sequencing (WGS) in Adult Neurology (NeuroSEQ)

Neurologic Disorder | Neurologic Deficits | Neurologic Abnormalities

United States
Taipei Veterans General Hospital, Taiwan

Not yet recruiting

Dry Eye Syndrome, Healthy Control, Sjögren's Syndrome and Other Inflammation Disease in Taiwan Biobank

Inflammation | Sjogren's Syndrome | Dry Eye Syndrome | Healthy Control

Taiwan
University Health Network, Toronto
Western University, Canada; Public Health Ontario Laboratory, Canada

Recruiting

M. Avium WGS During Mav-PD Treatment

Respiratory Tract Diseases | Mycobacterium Infections | Mycobacterium Infections, Nontuberculous | Nontuberculous Mycobacterial Lung Disease | Mycobacterium Avium

Canada
Baylor College of Medicine

Completed

Genetic Inclusion by Virtual Evaluation (GIVE)

Neurodevelopmental Disorders | Birth Defects | Multiple Congenital Anomaly

United States
Blood Donation Service Zurich, SRC

Unknown

Whole Genome Sequencing for Blood Group Genotyping and Definition as Exemplified on U- and St(a)+. (Blood Genome)

Genetic Blood Group (bg) Polymorphism in U Negativity and St(a) of MNSs

Switzerland
Heinrich-Heine University, Duesseldorf
German Cancer Aid

Not yet recruiting

Prostate Cancer Prevention Clinic for Men With Risk of Familial Prostate Cancer (ProFam-Risk)

Prostate Cancer | Familial Prostate Cancer
Peter MacCallum Cancer Centre, Australia
National Health and Medical Research Council, Australia; University of Melbourne

Recruiting

Diagnosis and Phenotype Characterisation Using Genomics in Patients With Inherited Bone Marrow Failure (IBMDx Study) (IBMDx)

Hematologic Diseases | Inherited Platelet Disorder | Inherited BMF Syndrome

Australia
Imperial College London Diabetes Centre

Unknown

Application of UCPCR as a Testing Tool for Identification of MODY Patients in the UAE

Diabetes Mellitus, Type 2 | Diabetes Mellitus, Type 1 | Maturity-onset Diabetes of the Young

United Arab Emirates
Nantes University Hospital
Inserm UMR1087, CNRS UMR6291; Clinique des Données, CIC 1413, CHU Nantes; CIC-FEA...

Recruiting

Genetics of Ventriculo-arterial Discordance (PreciPed)

Heart Defects, Congenital

France
Sydney Children's Hospitals Network
Children's Cancer Institute Australia

Recruiting

Cancer Predisposition Testing by Family-based Whole-genome Sequencing (WGS) in Every Child With Newly Diagnosed Cancer (PREDICT)

Cancer | Neoplastic Syndromes, Hereditary | Genetic Predisposition to Disease

Australia
University Health Network, Toronto

Recruiting

Molecular Characteristics of Gastroesophageal Adenocarcinoma (MOCHA): A Prospective Feasibility Study (MOCHA)

Esophagogastric Adenocarcinoma

Canada
University of Illinois College of Medicine at Peoria
Rady Children's Institute of Genomic Medicine

Active, not recruiting

Utility of Rapid Whole Genome Sequencing in the NICU: A Pilot Study

Genetic Disease | Genetic Syndrome

United States
Illumina, Inc.
Children's Hospital of Philadelphia; St. Louis Children's Hospital; Children's... and other collaborators

Completed

NICUSeq: A Trial to Evaluate the Clinical Utility of Human Whole Genome Sequencing (WGS) Compared to Standard of Care in Acute Care Neonates and Infants (NICU-Seq)

Rare Diseases

United States
Peking Union Medical College Hospital

Unknown

Clinical Application of ctDNA in Early Screening of Breast Cancer

Breast Cancer
Munich Leukemia Laboratory
Illumina, Inc.

Recruiting

Solving Riddles Through Sequencing (SIRIUS)

Leukemia | Rare Diseases | Refractory Lymphoma | Hematologic Malignancy | Refractory Leukemia | Unknown Primary Tumors

Germany
Nantes University Hospital

Completed

Study of cardiovAscular Contrasted Phenotypes in Patients With FamIliaI hypercholesteRolemia (SAFIR)

Homozygous Familial Hypercholesterolemia

France
Children's Mercy Hospital Kansas City

Completed

Genomic Sequencing in Acutely Ill Neonates (NSIGHT)

Genetic Disease | Diseases/Diagnoses

United States
Peking University First Hospital

Recruiting

Establishment of a Multidimensional Prediction Model for the Natural Course of VHL Disease-related Renal Cell Carcinoma

Renal Cell Carcinoma | VHL Syndrome

China
Sun Yat-Sen Memorial Hospital of Sun Yat-Sen University
Nanjing Geneseeq Technology Inc.

Recruiting

Early Detection of Endometrial Cancer Using Plasma Cell-free DNA Fragmentomics

Endometrial Cancer

China
Rady Pediatric Genomics & Systems Medicine Institute

Active, not recruiting

Newborn Genomic Sequencing Pilot Study

Genetic Disease

United States
University of California, San Diego

Withdrawn

Development of an Optimal Approach to Return of Results for Next-generation Sequencing for Prenatal Diagnosis

Major Fetal Anomaly

United States
Steno Diabetes Center Greenland
Zealand University Hospital; University of Copenhagen

Recruiting

Phenotypic and Genotypic Characterization of Patients With Dysmetabolism in Greenland

Diabetes Mellitus, Type 2 | Diabetic Neuropathies | Diabetic Retinopathy | Obstructive Sleep Apnea | Obesity, Morbid | MODY

Greenland
Geneplus-Beijing Co. Ltd.
Beijing Hospital; Emergency General Hospital

Recruiting

Benign/Malignant Pulmonary Nodule Classification Based on High-throughput Whole-genome Methylation Sequencing(GM-seq)

Pulmonary Nodule, Solitary | Whole-genome Methylation Sequencing

China
Kaiser Permanente
National Human Genome Research Institute (NHGRI)

Completed

Clinical Implementation of Carrier Status Using Next Generation Sequencing (NextGen)

Genetic Disorders

United States
GenEmbryomics Pty. Ltd

Recruiting

Whole Genome Sequencing (WGS) on IVF Embryos and Individual Patients (EmbryoWGS)

Fertility Issues | Single-Gene Defects

United States, Turkey
Magdi Yacoub Heart Foundation

Recruiting

Aswan Heart Centre - Egyptian Healthy Volunteers (AHC-EHVol)

Genetic Predisposition to Disease

Egypt
Scripps Translational Science Institute

Recruiting

The Sequencing for Detection in Congenital Heart Disease (SD-CHD) Study

Congenital Heart Disease

United States
University of Wisconsin, Madison
University of Wisconsin Center for Human Genomics and Precision Medicine

Recruiting

UW Undiagnosed Genetic Diseases Program

Rare Diseases | Genetic Disease | Undiagnosed Disease

United States
University of Copenhagen
Rigshospitalet, Denmark; Hvidovre University Hospital; Herlev Hospital; Steno Diabetes... and other collaborators

Enrolling by invitation

Translating Genetic Knowledge Into Clinical Care in Non-Autoimmune Diabetes (TRANSLATE)

Diabetes Mellitus, Type 2 | Diabetes, Gestational

Denmark

Search clinical trials for: Whole genome sequencing and Genome-Epigenome-Phenome Associations

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