gMendel abstract in London Calling 2, May 18-20, 2022

A novel assay based on Oxford Nanopore technology for potential mass screening of Klinefelter syndrome Klinefelter syndrome (KS) is the most common and most underdiagnosed sex chromosomal abnormality with prevalence of 1 in 500 male births. Affected KS males carry an...

gMendel abstract 1 in London Calling, May 18-20,2022

Torchlex: a method for real-time demultiplexing of barcoded Oxford Nanopore reads Torchlex: a method for real-time demultiplexing of barcoded Oxford Nanopore reads Multiplexing (barcoding) is an efficient and cost-effective method that is used to distribute...

gMendel abstract in NORD Rare Summit, October 17-18,2022

A novel cost-effective diagnostic tool for detection of genetic diseases A novel cost-effective diagnostic tool for detection of genetic diseases Purpose: To develop a software platform for real-time automated analysis and detection of genetic diseases using Oxford...