Murad Chowdhury

Nov 4, 2024 | biorxiv.org | Kristen Schneider |Murad Chowdhury |Mariano Tepper |Jawad Khan

AbstractMany patients do not experience optimal benefits from medical advances because clinical research does not adequately represent them. While the diversity of biomedical research cohorts is improving, ensuring that individual patients are adequately represented remains challenging. We propose a new approach, GenoSiS, which leverages machine learning-based similarity search to dynamically find patient-matched cohorts across different populations quickly.

Oct 1, 2024 | biorxiv.org | Xinchang Zheng |Murad Chowdhury |Aaron Clauset |Behzod Mirpochoev

AbstractThe prioritization of Structural Variants (SV), which is needed to rank and identify potential pathogenic alleles, is still in its infancy. This is exemplified over gnomAD only being able to annotate 33.5% of GIAB SVs. To overcome this, we present the first long-read based annotation resource for both GRCh38 and CHM13-T2T reference using STIX.