Proteins are finicky molecules; they are barely stable and are prone to aggregate, but they
must function in a crowded environment that is full of degradative enzymes bent on their …

The variant call format (VCF) is a generic format for storing DNA polymorphism data such as
SNPs, insertions, deletions and structural variants, together with rich annotations. VCF is …

Recent advances in sequencing technology make it possible to comprehensively catalog
genetic variation in population samples, creating a foundation for understanding human …

Next-generation DNA sequencing (NGS) projects, such as the 1000 Genomes Project, are
already revolutionizing our understanding of genetic variation among individuals. However, …

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 …

Antibiotic resistance arises through mechanisms such as selection of naturally occurring
resistant mutants and horizontal gene transfer. Recently, oxidative stress has been implicated …

In Escherichia coli, the multi-enzyme RNA degradosome contributes to the global,
posttranscriptional regulation of gene expression. The degradosome components are recognized …

Five point mutations in a particular β-lactamase allele jointly increase bacterial resistance to
a clinically important antibiotic by a factor of ∼100,000. In principle, evolution to this high-…

Genome-sequencing studies indicate that all humans carry many genetic variants predicted
to cause loss of function (LoF) of protein-coding genes, suggesting unexpected redundancy …

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 …