DNase I hypersensitive sites (DHSs) are markers of regulatory DNA and have underpinned
the discovery of all classes of cis-regulatory elements including enhancers, promoters, …

Genome-wide association studies have identified many noncoding variants associated with
common diseases and traits. We show that these variants are concentrated in regulatory …

The laboratory mouse shares the majority of its protein-coding genes with humans, making
it the premier model organism in biomedical research, yet the two mammals differ in …

Genetic variation among individual humans occurs on many different scales, ranging from
gross alterations in the human karyotype to single nucleotide changes. Here we explore …

We have developed technologies for creating saturating libraries of sequence-defined
transposon insertion mutants in which each strain is maintained. Phenotypic analysis of such …

Inversions, deletions and insertions are important mediators of disease and disease
susceptibility 1 . We systematically compared the human genome reference sequence with a …

Regulatory factor binding to genomic DNA protects the underlying sequence from cleavage
by DNase I, leaving nucleotide-resolution footprints. Using genomic DNase I footprinting …

The large and growing number of genome-wide datasets highlights the need for high-performance
feature analysis and data comparison methods, in addition to efficient data storage …

The human mitochondrial genome comprises a distinct genetic system transcribed as precursor
polycistronic transcripts that are subsequently cleaved to generate individual mRNAs, …

DNase I hypersensitive sites (DHSs) are generic markers of regulatory DNA 1 , 2 , 3 , 4 – 5
and contain genetic variations associated with diseases and phenotypic traits 6 , 7 – 8 . We …