Award
National Human Genome Research Institute 1R43HG014080-01
CRISPR-based depletion method for resolving pseudogene contamination in Next Generation Sequencing (NGS) based genetic testing
Recipient
Jumpcode Genomics
Award Amount
$383,748.00
Ceiling
$383,748.00
Awarded
February 24, 2025
Identifier
1R43HG014080-01
This award funds the development of a CRISPR-based method to remove pseudogene contamination in genetic testing using NGS, aiming to improve diagnostic accuracy especially for newborn screening.
Description
Development of a CRISPR-based depletion technology to degrade molecules derived from pseudogenes in NGS libraries to reduce false-positive rates and improve sensitivity and specificity in detecting clinically relevant SNPs, with applications in newborn screening and clinical diagnostics.