GenomicsbioRxiv
Probabilities of Fitness Consequences for Point Mutations Across the Human Genome
Brad Gulko, Ilan Gronau, Melissa J Hubisz, Adam Siepel
The paper introduces fitCons scores to estimate fitness consequences of point mutations across the human genome using functional genomic data and polymorphism patterns, showing improved prediction for cis-regulatory elements.
DOI 10.1038/ng.3196