Emerging microarray technologies allow affordable typing of very long genome sequences. A key challenge in analyzing of such huge amount of data is scalable and accurate computatio...
Background: Illumina’s Infinium SNP BeadChips are extensively used in both small and large-scale genetic studies. A fundamental step in any analysis is the processing of raw all...
Matthew E. Ritchie, Ruijie Liu, Benilton Carvalho,...
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...
Abstract. While the discovery of structural variants in the human population is ongoing, most methods for this task assume that the genome is sequenced to high coverage (e.g. 40x),...