Now showing items 1-6 of 6
Performance evaluation of indel calling tools using real short-read data
(Biomed Central Ltd, 2015-08-19)
Background Insertion and deletion (indel), a common form of genetic variation, has been shown to cause or contribute to human genetic diseases and cancer. With the advance of next-generation sequencing technology, many ...
Investigating bisulfite short-read mapping failure with hairpin bisulfite sequencing data
Background: DNA methylation is an important epigenetic mark relevant to normal development and disease genesis. A common approach to characterizing genome-wide DNA methylation is using Next Generation Sequencing technology ...
Identification and analysis of the N-6-methyladenosine in the Saccharomyces cerevisiae transcriptome
(Springer Nature, 2015-09-07)
Knowledge of the distribution of N-6-methyladenosine (m(6)A) is invaluable for understanding RNA biological functions. However, limitation in experimental methods impedes the progress towards the identification of m(6)A ...
The pattern of DNA cleavage intensity around indels
(Springer Nature, 2015-02-09)
Indels (insertions and deletions) are the second most common form of genetic variations in the eukaryotic genomes and are responsible for a multitude of genetic diseases. Despite its significance, detailed molecular ...
HMMvar-func: a new method for predicting the functional outcome of genetic variants
Abstract Background Numerous tools have been developed to predict the fitness effects (i.e., neutral, deleterious, or beneficial) of genetic variants on corresponding ...
Predicting the combined effect of multiple genetic variants
Background Many genetic variants have been identified in the human genome. The functional effects of a single variant have been intensively studied. However, the joint effects of multiple variants in the same genes have ...