Neerja Karnani

RD-Embed: Unified representations of rare-disease knowledge from clinical records

RD-Embed improves rare-disease diagnosis by aligning clinical text and SNOMED codes through a three-stage framework, achieving better retrieval performance than existing models.

Short-term diet intervention alters the small non-coding RNA (sncRNA) landscape of human sperm

The paper shows diet intervention alters sncRNA expression in human sperm, linking paternal nutrition to offspring health through epigenetic changes.

RAPTOR: A Five-Safes approach to a secure, cloud native and serverless genomics data repository

RAPTOR provides a secure, cloud-native genomics repository with a five-safes framework to ensure compliance and data protection for genomic research.

Developmental and Intergenerational Landscape of Human Circulatory Lipidome and its Association with Obesity Risk

The paper maps the developmental and intergenerational changes in the human circulatory lipidome and identifies lipid signatures associated with obesity risk in mothers and offspring.

A transcription regulatory network within the ACE2 locus may promote a pro-viral environment for SARS-CoV-2 by modulating expression of host factors.

The paper identifies regulatory elements within the ACE2 locus that control host gene expression, suggesting they may contribute to a pro-viral environment for SARS-CoV-2.

Large-scale whole-genome sequencing of three diverse Asian populations in Singapore

This study presents whole-genome sequencing data from 4,810 Singaporeans across three ethnic groups, revealing genetic structure, admixture, and improved imputation for Asian and Oceanian populations.