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NAR
2011
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13 years 2 months ago
New tools and methods for direct programmatic access to the dbSNP relational database
Genome-wide association studies often incorporate information from public biological databases in order to provide a biological reference for interpreting the results. The dbSNP d...
Scott F. Saccone, Jiaxi Quan, Gaurang Mehta, Rapha...
BMCBI
2011
13 years 3 months ago
New Words in Human Mutagenesis
Background: The substitution rates within different nucleotide contexts are subject to varying levels of bias. The most well known example of such bias is the excess of C to T (C ...
Alexander Y. Panchin, Sergey I. Mitrofanov, Andrei...
BMCBI
2011
13 years 3 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 3 months ago
A fast and accurate method to detect allelic genomic imbalances underlying mosaic rearrangements using SNP array data
Background: Mosaicism for copy number and copy neutral chromosomal rearrangements has been recently identified as a relatively common source of genetic variation in the normal pop...
Juan R. González, Benjamin Rodriguez-Santia...
ISBI
2011
IEEE
13 years 3 months ago
Boosting power to detect genetic associations in imaging using multi-locus, genome-wide scans and ridge regression
Most algorithms used for imaging genetics examine statistical effects of each individual genetic variant, one at a time. We developed a new approach, based on ridge regression, to...
Omid Kohannim, Derrek P. Hibar, Jason L. Stein, Ne...