This unit describes how to use BWA and the Genome Analysis Toolkit (GATK) to map genome
sequencing data to a reference and produce high‐quality variant calls that can be used in …

Comprehensive disease gene discovery in both common and rare diseases will require the
efficient and accurate detection of all classes of genetic variation across tens to hundreds of …

Allelic expression analysis has become important for integrating genome and transcriptome
data to characterize various biological phenomena such as cis-regulatory variation and …

Specialized RNA-seq methods are required to identify the 5′ ends of transcripts, which are
critical for studies of gene regulation, but these methods have not been systematically …

The promise of precision medicine lies in data diversity. More than the sheer size of biomedical
data, it is the layering of multiple data modalities, offering complementary perspectives, …

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Motivation: The roughness of energy landscapes is a major obstacle to protein structure
prediction, since it forces conformational searches to spend much time struggling to escape …

Background The dramatic reduction in the cost of sequencing has allowed many researchers
to join in the effort of sequencing and annotating prokaryotic genomes. Annotation …

Large-scale reference data sets of human genetic variation are critical for the medical and
functional interpretation of DNA sequence changes. Here we describe the aggregation and …