rare disease
Through close collaboration of more than 300 genomics and disease experts, the pan-European consortium solved more than 500 difficult cases.
Parents are suing the defendants for negligent genetic counseling and testing that they allege precluded their ability to avoid having children with Duchenne.
Broad Institute and Northwestern University researchers are encouraging others to examine noncoding genes, when investigating undiagnosed rare diseases.
Proposed Fetal Genome Sequencing Actionable Findings List Could Improve Rare Disease Diagnosis
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A subset of gene variants from the ACMG secondary findings list for adults and children may also prove actionable at fetal stages of development.
Nasdaq to Delist Centogene
The German firm did not appeal the decision and will be delisted after having failed to achieve certain milestones to retain its status as a listed company.