BGI Genomics New NIPT Method Reveals Pathogenic CNVs in the DMD Gene (IMAGE)

BGI Genomics

BGI Genomics New NIPT Method Reveals Pathogenic CNVs in the DMD Gene

Caption

Frequency and phenotypic spectrum of the 64 pathogenic/likely pathogenic CNVs comparing with 19,775 patients from the LOVD. CNVs, copy number variants; P, pathogenic; LP, likely pathogenic; VUS, variants of uncertain significance; LB, likely benign; DMD, Duchenne muscular dystrophy; BMD, Becker muscular dystrophy; LOVD, Leiden Open Variation Database.
 

Credit

BGI Genomics

Usage Restrictions

Journalists may use in their content

License

Original content

Disclaimer: AAAS and EurekAlert! are not responsible for the accuracy of news releases posted to EurekAlert! by contributing institutions or for the use of any information through the EurekAlert system.