With the emergence of RNA sequencing (RNA-seq) technologies, RNA-based biomolecules
hold expanded promise for their diagnostic, prognostic and therapeutic applicability in …

High-throughput sequencing technologies are revolutionizing the life sciences. The past 12
months have seen a burst of genome sequences from non-model organisms, in each case …

We describe a reference panel of 64,976 human haplotypes at 39,235,157 SNPs
constructed using whole-genome sequence data from 20 studies of predominantly …

Background High-throughput DNA sequencing technologies are generating vast amounts of
data. Fast, flexible and memory efficient implementations are needed in order to facilitate …

With genomic variant detection methods, we can determine point-wise differences against a
reference genome. Widely-used methods fail to reliably characterize the relative phase of …

Major depressive disorder (MDD), one of the most frequently encountered forms of mental
illness and a leading cause of disability worldwide, poses a major challenge to genetic …

Thousands of genomic segments appear to be present in widely varying copy numbers in
different human genomes. We developed ways to use increasingly abundant whole-genome …

The analysis of next-generation sequencing data is computationally and statistically
challenging because of the massive volume of data and imperfect data quality. We present …

A major use of the 1000 Genomes Project (1000GP) data is genotype imputation in genome-
wide association studies (GWAS). Here we develop a method to estimate haplotypes from …

Genotype imputation has become a standard tool in genome-wide association studies
because it enables researchers to inexpensively approximate whole-genome sequence …