Now showing items 1-4 of 4
vi-HMM: a novel HMM-based method for sequence variant identification in short-read data
Abstract Background Accurate and reliable identification of sequence variants, including single nucleotide polymorphisms (SNPs) and insertion-deletion polymorphisms (INDELs), ...
Uncovering missed indels by leveraging unmapped reads
(Springer Nature, 2019-07-31)
In current practice, Next Generation Sequencing (NGS) applications start with mapping/aligning short reads to the reference genome, with the aim of identifying genetic variants. Although existing alignment tools have shown ...
Vindel: a simple pipeline for checking indel redundancy
(Biomed Central Ltd, 2014-11-19)
Background With the advance of next generation sequencing (NGS) technologies, a large number of insertion and deletion (indel) variants have been identified in human populations. Despite much research into variant calling, ...
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 ...