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BMCBI
2011
13 years 2 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
13 years 2 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»
13 years 1 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 11 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 11 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-...