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Analysis of Short-read Aligners using Genome Sequence Complexity

2020 12th International Conference on Knowledge and Systems Engineering (KSE), 2020
Next generation sequencing technologies have the capability to provide large numbers of short reads inexpensively and accurately. Researchers have proposed many different methods to align short reads to reference genomes. Nevertheless, long repeats, which are known to be abundant in eukaiyotic genomes, have caused considerable difficulty for genome ...
Quang Tran 0002   +4 more
openaire   +2 more sources

Detecting Signatures of TE Polymorphisms in Short-Read Sequencing Data

2021
Transposable elements (TEs) are an important cause of evolutionary change and functional diversity, yet they are routinely discarded in the first steps of many analyses. In this chapter we show how, given a reference genome, TEs can be incorporated fairly easily into functional and evolutionary studies.
Stritt, Christoph, Roulin, Anne C
openaire   +2 more sources

An algorithm for mapping short reads to a dynamically changing genomic sequence

2010 IEEE International Conference on Bioinformatics and Biomedicine (BIBM), 2010
The constant advances in sequencing technology have redefined the way genome sequencing is performed. They are able to produce tens of millions of short sequences (reads), during a single experiment, and with a much lower cost than previously possible.
Tomás Flouri   +3 more
openaire   +3 more sources

Innovations in Short-Read Sequencing Technologies and Their Applications to Clinical Genomics

Clinical Chemistry
Abstract Background Massively parallel sequencing (MPS) of nucleic acids has been a transformative technology for basic and applied genomic science, increasing efficiencies and decreasing costs to enable studies of unprecedented scope and impact.
Katarzyna Polonis   +5 more
openaire   +2 more sources

HLA Typing from Short-Read Sequencing Data with OptiType

2018
The established standards for HLA genotyping rely on targeted DNA sequencing techniques. However, the increasing abundance of short-read sequencing data has prompted a demand for computational tools capable of HLA typing from general purpose sequencing data as well.
openaire   +2 more sources

Aligning Short Sequencing Reads With Bowtie

Current Protocols in Bioinformatics, 2010
Benjamin Langmead
exaly  

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