Prospective Study to Assess Medical Performance of Optical Mapping and Long Read Sequencing in Detecting Numerical and Structural Chromosome Abnormalities

NARecruitingINTERVENTIONAL
Enrollment

400

Participants

Timeline

Start Date

September 26, 2022

Primary Completion Date

March 26, 2025

Study Completion Date

June 26, 2026

Conditions
InfertilityIntellectual DisabilityMalformationMiscarriage
Interventions
GENETIC

Optical Genome Mapping (Bionano®)

Search for chromosome abnormalities through alteration of the optical map of the genome compared to reference genome using the Bionano® 's pipeline.

GENETIC

Longread sequencing (Nanopore®)

Search for chromosome abnormalities from the sequencing data obtain from high molecular weight DNA molecules using dedicated analysis pipeline.

Trial Locations (1)

75014

RECRUITING

Cochin APHP, Paris

All Listed Sponsors
collaborator

CHU Rennes - Hopital Pontchaillou

OTHER

collaborator

APHP

OTHER

collaborator

CHU de Rouen - Accueil

OTHER

collaborator

University Hospital, Strasbourg

OTHER

collaborator

Université Montpellier

OTHER

collaborator

University Hospital, Clermont-Ferrand

OTHER

collaborator

CHU de Reims

OTHER

collaborator

APHM

UNKNOWN

collaborator

Hospices Civils de Lyon

OTHER

lead

Institut National de la Santé Et de la Recherche Médicale, France

OTHER_GOV