2-AIN-505, 2-AIN-251: Seminár z bioinformatiky (1) a (3)
Zima 2018
Abstrakt

Fritz J. Sedlazeck, Philipp Rescheneder, Moritz Smolka, Han Fang, Maria Nattestad, Arndt {von Haeseler}, Michael C. Schatz. Accurate detection of complex structural variations using single-moleculesequencing. Nature methods, 15(6):461-468. 2018.

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Abstract:

Structural variations are the greatest source of genetic variation, but they
remain poorly understood because of technological limitations. Single-molecule
long-read sequencing has the potential to dramatically advance the field,
although high error rates are a challenge with existing methods. Addressing this 
need, we introduce open-source methods for long-read alignment (NGMLR;
https://github.com/philres/ngmlr ) and structural variant identification
(Sniffles; https://github.com/fritzsedlazeck/Sniffles ) that provide
unprecedented sensitivity and precision for variant detection, even in
repeat-rich regions and for complex nested events that can have substantial
effects on human health. In several long-read datasets, including healthy and
cancerous human genomes, we discovered thousands of novel variants and
categorized systematic errors in short-read approaches. NGMLR and Sniffles can
automatically filter false events and operate on low-coverage data, thereby
reducing the high costs that have hindered the application of long reads in
clinical and research settings.