The Human Phenotype Ontology (HPO)—a standardized vocabulary of phenotypic
abnormalities associated with 7000+ diseases—is used by thousands of researchers, clinicians, …

A genome-scale genetic interaction map was constructed by examining 5.4 million gene-gene
pairs for synthetic genetic interactions, generating quantitative genetic interaction profiles …

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

Deep phenotyping has been defined as the precise and comprehensive analysis of phenotypic
abnormalities in which the individual components of the phenotype are observed and …

There are few better examples of the need for data sharing than in the rare disease community,
where patients, physicians, and researchers must search for “the needle in a haystack” to …

Recent technologies have made it cost-effective to collect diverse types of genome-wide
data. Computational methods are needed to combine these data to create a comprehensive …

To study gene evolution across a wide range of organisms, biologists need accurate tools
for multiple sequence alignment of protein families. Obtaining accurate alignments, however, …

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, …

We report on a major update (version 2) of the original SHort Read Mapping Program (SHRiMP).
SHRiMP2 primarily targets mapping sensitivity, and is able to achieve high accuracy at …

The Human Phenotype Ontology (HPO) project, available at http://www.human-phenotype-ontology.org
, provides a structured, comprehensive and well-defined set of 10,088 classes (…