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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
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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

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