INTRODUCTION Brain disorders may exhibit shared symptoms and substantial epidemiological
comorbidity, inciting debate about their etiologic overlap. However, detailed study of …

The reference human genome sequence set the stage for studies of genetic variation and
its association with human disease, but epigenomic studies lack a similar reference. To …

Mammalian microRNAs (miRNAs) pair to 3′UTRs of mRNAs to direct their posttranscriptional
repression. Important for target recognition are ∼7 nt sites that match the seed region of …

… First, we matched control k-mers using an expected conservation based on both the k-mer’s
GC content and the expected conservation of its constituent dinucleotides, which enabled a …

Recent work has demonstrated that some functional categories of the genome contribute
disproportionately to the heritability of complex diseases. Here we analyze a broad set of …

Thousands of mammalian messenger RNAs are under selective pressure to maintain 7-nucleotide
sites matching microRNAs (miRNAs). We found that these conserved targets are …

Genome-wide association studies have identified loci underlying human diseases, but the
causal nucleotide changes and mechanisms remain largely unknown. Here we developed a …

Polygenic risk scores have shown great promise in predicting complex disease risk and will
become more accurate as training sample sizes increase. The standard approach for …

… Top-k accuracy is the fraction of correctly predicted splice sites … We also show the top-k
accuracy and PR-AUC for three … in k GTEx individuals, we picked a random subset of k GTEx …

Copy number variants (CNVs) have been strongly implicated in the genetic etiology of
schizophrenia (SCZ). However, genome-wide investigation of the contribution of CNV to risk has …