Elise D. Flynn

The paper designs stable mRNA 3' UTRs using machine learning and experimental validation, achieving higher protein production in mouse models.

The paper links LIPA risk alleles to increased monocyte/macrophage LIPA expression, which exacerbates atherosclerosis through enhanced PU.1 binding and altered macrophage function.

The paper identifies 6,262 TF-eQTL interactions across 1,598 genes using GTEx data, linking genetic variants to transcription factor regulation and GWAS loci.

The paper presents a large ASE resource from GTEx v8 with 431 million SNP-level and 153 million haplotype-level measurements, and extends phASER to estimate cis regulatory variant effect sizes.

The paper uses bulk RNA-seq data to estimate cell type abundances and identifies cell type interaction QTLs that provide finer resolution of tissue specificity than bulk cis-eQTLs.

The paper examines telomere length variation across 6,391 tissue samples from 952 individuals, showing tissue-specific differences, positive correlations between tissues, and associations with age and ancestry.

Integrating expression, allelic expression and splicing across tissues identifies rare variants with relevance to traits.

The paper quantifies protein levels across 32 human tissues and compares them to transcriptome data, revealing insights into post-transcriptional regulation and disease mechanisms.

GTEx v8 maps expression and splicing QTLs in 49 tissues from 838 donors: cis-eQTLs cover 94.7% of protein-coding genes, and cross-tissue QTL sharing mirrors cell-type composition.

The paper develops a computational method, mCross, to model RBP binding specificity using precise crosslink site registration and validates it with ENCODE eCLIP data.

The paper develops Episcore, a method using epigenomic data to predict haploinsufficient genes, showing improved performance over existing methods in prioritizing loss of function variants in developmental disorders.