Nikhil Milind

Allele Frequencies at Recessive Disease Genes are Mainly Determined by Pleiotropic Effects in Heterozygotes

This study finds that allele frequencies at recessive disease genes are mainly shaped by pleiotropic effects in heterozygotes, not purely recessive selection.

High false sign rates in transcriptome-wide association studies

This study estimates the false sign rate in transcriptome-wide association studies (TWAS) for plasma proteins and complex traits, finding high discordance between predicted and expected gene effects.

Specificity, length, and luck: How genes are prioritized by rare and common variant association studies

This paper compares how GWAS and rare variant burden tests prioritize genes for 209 traits in the UK Biobank, showing they focus on different genes due to distinct prioritization criteria.

Buffering and non-monotonic behavior of gene dosage response curves for human complex traits

The paper analyzes gene dosage response curves for human complex traits and shows that they exhibit biased direction of effect, developing a theoretical model to explain this phenomenon.

eQTLs identify regulatory networks and drivers of variation in the individual response to sepsis

The paper identifies eQTLs and regulatory networks linking genetic variation to transcriptomic responses in sepsis, highlighting key regulators like HIF1A and CEBPB.

Transcriptomic Stratification of Late-Onset Alzheimer’s Cases Reveals Novel Genetic Modifiers of Disease Pathology

This study identifies novel genetic modifiers of late-onset Alzheimer's disease by stratifying patients into molecular subtypes using transcriptomic data and whole genome sequencing.