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BMCBI
2011
12 years 9 months ago
Inference of Chromosome-Specific Copy Numbers Using Population Haplotypes
Background: Using microarray and sequencing platforms, a large number of copy number variations (CNVs) have been identified in humans. In practice, because our human genome is a d...
Yao-Ting Huang, Min-Han Wu
BMCBI
2011
12 years 9 months ago
Improving pan-genome annotation using whole genome multiple alignment
Background: Rapid annotation and comparisons of genomes from multiple isolates (pan-genomes) is becoming commonplace due to advances in sequencing technology. Genome annotations c...
Samuel V. Angiuoli, Julie C. Dunning Hotopp, Steve...
JAMIA
2011
98views more  JAMIA 2011»
12 years 8 months ago
Mapping clinical phenotype data elements to standardized metadata repositories and controlled terminologies: the eMERGE Network
Background Systematic study of clinical phenotypes is important for a better understanding of the genetic basis of human diseases and more effective gene-based disease management....
Jyotishman Pathak, Janey Wang, Sudha Kashyap, Meli...
BMCBI
2008
119views more  BMCBI 2008»
13 years 5 months ago
Snagger: A user-friendly program for incorporating additional information for tagSNP selection
Background: There has been considerable effort focused on developing efficient programs for tagging single-nucleotide polymorphisms (SNPs). Many of these programs do not account f...
Christopher K. Edlund, Won H. Lee, Dalin Li, David...
BMCBI
2007
131views more  BMCBI 2007»
13 years 5 months ago
ISHAPE: new rapid and accurate software for haplotyping
Background: We have developed a new haplotyping program based on the combination of an iterative multiallelic EM algorithm (IEM), bootstrap resampling and a pseudo Gibbs sampler. ...
Olivier Delaneau, Cédric Coulonges, Pierre-...