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Probability Model for Boundaries of Short-Read Sequencing

2012 International Conference on Advances in Computing and Communications, 2012
The need for sequencing DNA has been growing tremendously over the past few years. Current next-generation sequencing techniques produce huge amounts of data but time and money remain limiting factors for researchers. Given a DNA sample, it is essential to produce a sufficient number of reads to create or recreate a digital representation of the DNA ...
Florian Schatz   +2 more
openaire   +1 more source

RNA Sequencing Protocols for Short-Read Sequencing

RNA sequencing (RNA-seq) methodologies allow the discovery of novel variants and transcripts. These comprise three general steps: (1) capture of RNA species of interest, (2) conversion of RNA to complementary DNA (cDNA), and (3) modification of cDNA to fit the sequencing platform.
Laura, Vasquez-Velez   +2 more
openaire   +2 more sources

Mapping short reads to a genomic sequence with circular structure

Proceedings of the 10th IEEE International Conference on Information Technology and Applications in Biomedicine, 2010
Constant advances in DNA sequencing technologies are turning whole-genome sequencing into a routine procedure, resulting in massive amounts of data that need to be processed. Tens of gigabytes of data, in the form of short sequences (reads), need to be mapped back onto reference sequences, a few gigabases long.
Flouri, Tomas   +3 more
openaire   +3 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

Short read sequencing in studies of natural variation and adaptation

Current Opinion in Plant Biology, 2013
Today's high throughput sequencing approaches, coupled with equally revolutionary advances in bioinformatics, allow us to describe and analyze genomes in unprecedented detail. Short Read Sequencing (SRS) approaches have been especially instrumental in bringing genomic analysis to a wide range of questions and species in plant biology.
Ben, Hunter   +2 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

Short-Read Sequencing Detects Large Structural Variants in Cancer Genomes

Cancer Discovery
Abstract Most large structural variants (SV) can be detected by short-read sequencing (SRS) of cancer genomes.
openaire   +2 more sources

Whole-Exome Sequencing (WES) for Illumina Short Read Sequencers Using Solution-Based Capture

2019
Next-generation sequencing (NGS) is transforming clinical research and diagnostics, vastly enhancing our ability to identify novel disease-causing genetic mutations and perform comprehensive diagnostic testing in the clinic. Whole-exome sequencing (WES) is a commonly used method which captures the majority of coding regions of the genome for sequencing,
Milind C, Mahajan, Andrew S, McLellan
openaire   +2 more sources

Treatment of muscle‐invasive and advanced bladder cancer in 2020

Ca-A Cancer Journal for Clinicians, 2020
Vaibhav G Patel   +2 more
exaly  

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