Yoseph Barash

Raw fastq files were downloaded from the ENCODE portal (http://www.encodeproject.org). All RNA-seq samples used in this study are listed in Additional file 1: Table S1. Adapter sequences were removed and low quality ends were trimmed using BBDuk, part of the BBTools suite (http://sourceforge.net/projects/bbmap/), using the provided adapter fasta file and using the following parameters: ktrim = r, k = 23, mink = 11, hdist = 1, minlength = 35, tpe, tbo, qtrim = r, trimq = 20, qin = 33.

Keywords RNA splicing RNA-seq sQTL weighted hypothesis testing statistical genetics Alzheimer Parkinson MS4A3 MAJIQ effect size Introduction Genome-wide association studies (GWASs) have implicated thousands of genetic variants in human complex traits and disease. However, elucidating the functional mechanisms through which a variant acts on a trait remains challenging.

Abstract The 3′ untranslated regions (3′UTRs) of mRNAs play a critical role in controlling gene expression and function because they contain binding sites for microRNAs and RNA binding proteins (RBPs) that alter mRNA stability, localization, and translation.