Manolis Kellis

TL;DR: High-Definition Reporter Assay provides a general, scalable, high-throughput, and high-resolution approach for experimental dissection of regulatory regions and driver nucleotides in the context of human biology and disease.

TL;DR: This work shows that a single amino acid, arginine, is the major contributor to codon usage bias differences across domains of life, and exploits the finding to show that the identified domain-specific codon bias signatures can be used to classify a given sequence into its corresponding domain with high accuracy.

TL;DR: In this paper, a deep-coverage whole-genome sequencing in 8,392 individuals of European and African American ancestries was performed to comprehensively delineate the inherited basis for plasma Lp(a), where apolipoprotein(a) was found to be 85% heritable among African Americans and 75% among Europeans, with notable inter-ethnic heterogeneity.

TL;DR: These analyses provide a comprehensive characterization of trans-eQTLs across human tissues, which contribute to an improved understanding of the tissue-specific cellular mechanisms of regulatory genetic variation.

TL;DR: The Encyclopedia of DNA Elements (ENCODE) catalog and similar data resources are viewed as important foundations for understanding the DNA elements and molecular mechanisms underlying human biology and disease.