Bioinformatics for personal genome interpretation

http://bib.oxfordjournals.org/content/13/4/495.full

Key Points

Vast amounts of variation data from genome sequencing studies need to be analyzed to understand its association with various phenotypes.

Well-curated databases, reliable tools for gene prioritization and accurate methods for predicting the impact of variants will be essential for the interpretation of personal genomes.

Standard and unified protocols […]

Databases and resources for personal genome interpretation

 

Database

URL

Description

Short variations—SNVs, short indels

1000 Genomes

http://www.1000genomes.org

Human short variants and inferred genotypes

dbSNP

http://www.ncbi.nlm.nih.gov/projects/SNP

Short variants from all species

HapMap

http://www.hapmap.org

Human short variants […]

Editorial: Current progress in Bioinformatics 2012

In this issue, we present an annual review of progress in critical areas ofbiomedical computing and informatics. Our ability to collect and storebiological and medical data has continued to increase at astoundingrates over the last few years. As a result, the scientific and technicalchallenges for informatics and computing more generally have alsoincreased. A colleague from […]