Author
Post Graduate Institute of Medical Education and ResearchORCID 0000-0003-0827-7429Unclaimed ORCID profile · follow to get notified of new preprints
3 papers
Recent·Most cited
Christian Cadisch, Victoria Nicole Parikh, Megan E. Grove…·Euan Angus Ashley
The paper integrates genomic and structural data to identify variant intolerance regions in cardiac sarcomere genes and links them to disease mechanisms in hypertrophic cardiomyopathy.
This study uses CRISPR-Cas13a to target and downregulate BCR-ABL in CML cells, reducing downstream gene expression and cell viability.
Intelli-NGS is a deep learning model that improves variant calling accuracy for IonTorrent sequencing data by reducing false positives and negatives.