Sources of gene expression variation in a globally diverse human cohort
Genetic variation that influences gene expression and splicing is a key source of phenotypic
diversity,,,–. Although invaluable, studies investigating these links in humans have been …
diversity,,,–. Although invaluable, studies investigating these links in humans have been …
DART-Eval: A Comprehensive DNA Language Model Evaluation Benchmark on Regulatory DNA
Recent advances in self-supervised models for natural language, vision, and protein
sequences have inspired the development of large genomic DNA language models …
sequences have inspired the development of large genomic DNA language models …
The genetic architecture of gene expression in individuals of African and European ancestry
We conducted two large scale studies of the genetics of gene expression in individuals of
African ancestry within a cohort of consented 23andMe research participants and in LCL …
African ancestry within a cohort of consented 23andMe research participants and in LCL …
Genotype inference from aggregated chromatin accessibility data reveals genetic regulatory mechanisms
Background Understanding the genetic causes for variability in chromatin accessibility can
shed light on the molecular mechanisms through which genetic variants may affect complex …
shed light on the molecular mechanisms through which genetic variants may affect complex …
ChromBPNet: bias factorized, base-resolution deep learning models of chromatin accessibility reveal cis-regulatory sequence syntax, transcription factor footprints …
Despite extensive mapping of cis-regulatory elements (cREs) across cellular contexts with
chromatin accessibility assays, the sequence syntax and genetic variants that regulate …
chromatin accessibility assays, the sequence syntax and genetic variants that regulate …