Otto Jolanki

Long-read sequencing of 81 human and mouse samples yields 200,000 full-length transcripts plus a triplet framework that separates promoter choice, splicing and 3' end use across tissues.

ENCODE's containerised Workflow Description Language pipelines for ChIP-seq, ATAC-seq, DNase-seq, RNA-seq variants, Hi-C and bisulfite sequencing run on cloud or local clusters, with documented compute costs and provenance.

The paper updates RegulomeDB to improve non-coding variant annotation by integrating new functional genomic data and probabilistic scores from the SURF algorithm.

The paper quantifies privacy leakage in functional genomics data and proposes a data-sanitization protocol to reduce it while preserving utility.

This study identifies genetic risk loci for narcolepsy, showing enrichment in immune cells and suggesting autoimmune modulation via T cell receptor chains and influenza-A infection.