Genome and exome sequencing yield extensive catalogues of human genetic variation.
However, pinpointing the few phenotypically causal variants among the many variants …

In contrast to protein-coding sequences, the significance of variation in non-coding DNA in
human disease has been minimally explored. A great number of recent genome-wide …

Abstract Comparison of DNA sequences from different species is a fundamental method for
identifying functional elements in genomes. Here, we describe the VISTA family of tools …

Comparisons of orthologous genomic DNA sequences can be used to characterize regions
that have been subject to purifying selection and are enriched for functional elements. We …

Unequivocal identification of the full composition of a gene is made difficult by the cryptic
nature of regulatory elements. Regulatory elements are notoriously difficult to locate and …

Comprehensive identification of all functional elements encoded in the human genome is a
fundamental need in biomedical research. Here, we present a comparative analysis of the …

Cold stress is an adverse environmental condition that affects plant growth, development,
and crop productivity. Under cold stress conditions, the expression of numerous genes that …

To compare entire genomes from different species, biologists increasingly need alignment
methods that are efficient enough to handle long sequences, and accurate enough to …

VISTA is a program for visualizing global DNA sequence alignments of arbitrary length. It
has a clean output, allowing for easy identification of similarity, and is easily configurable …

Thrombotic thrombocytopenic purpura is associated with acquired or congenital deficiency
of a plasma von Willebrand factor-cleaving protease (VWFCP). Based on partial amino acid …