Author

K. Farh

3 papers indexed here

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Open access Oct 2026

Genetic variants shape single-cell chromatin accessibility and disease risk.

Understanding how genetic variation shapes gene regulation at single-cell resolution is crucial for elucidating complex disease mechanisms1, but has been limited by the lack of large-scale single-cell multi-omics data2-4. Here we present single-cell assay for transposase-accessible chromatin with sequencing of 3.5 mill...

A. Xue, Jia-Nan Fan, Oscar A. Dong et al. · Nature · 3 citations

Open access Oct 2026

Rare and common genetic variants shape single-cell immune gene expression.

Understanding the genetic basis of gene expression can shed light on the regulatory mechanisms underlying complex traits and diseases1,2. Single-cell-resolved measures of RNA levels and single-cell expression quantitative trait loci have revealed genetic regulation that drives cell states and types across diverse tissu...

Anna S. E. Cuomo, E. Spenceley, H. Tanudisastro et al. · Nature · 3 citations

Open access Oct 2026

A unified framework for quantitative splicing and transcript prediction

RNA splicing is frequently disrupted by genetic variation, contributing to a wide range of human diseases. Identifying the variants responsible for altered splicing is therefore crucial but has long been challenging. Deep learning models that predict splicing from genomic sequence have substantially advanced their dete...

K. Jaganathan, Jian-Bin Chen, Xin Liu et al. · bioRxiv · 0 citations