Musaddeque Ahmed

memo-eQTL: DNA methylation modulated genetic variant effect on gene transcriptional regulation

The paper introduces memo-eQTL, a method to identify DNA methylation-modulated eQTLs, and finds 1,731 novel memo-eQTLs in prostate samples that alter SNP-gene expression interactions through CTCF-based chromatin structure changes.

HNRNPM controls circRNA biogenesis and splicing fidelity to sustain prostate cancer cell fitness

This study identifies HNRNPM as a splicing factor critical for prostate cancer cell growth by regulating splicing fidelity and circRNA biogenesis, suggesting it as a therapeutic target.

Hypercholesterolemia risk associated GPR146 is an orphan G-protein coupled receptor that regulates blood cholesterol level in human and mouse

The paper identifies rs1997243 as a risk variant for hypercholesterolemia that increases GPR146 expression, showing its role in regulating blood cholesterol in human and mouse models.

SgTiler: a fast method to design tiling sgRNAs for CRISPR/Cas9 mediated screening

sgTiler designs tiling sgRNAs for CRISPR/Cas9 screening efficiently and with minimal off-target effects.

Variant Set Enrichment: An R package to Identify Dis-ease-Associated Functional Genomic Regions

Variant Set Enrichment identifies disease-associated functional genomic regions by analyzing the enrichment of variants in annotated regions.