TY - JOUR
AU1 - Sedlazeck, Fritz
AU2 - Rescheneder, Philipp
AU3 - Smolka, Moritz
AU4 - Fang, Han
AU5 - Nattestad, Maria
AU6 - Haeseler, Arndt
AU7 - Schatz, Michael
AB - 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.
TI - Accurate detection of complex structural variations using single-molecule sequencing
JF - Nature Methods
DO - 10.1038/s41592-018-0001-7
DA - 2018-04-30
UR - https://www.deepdyve.com/lp/springer-journals/accurate-detection-of-complex-structural-variations-using-single-4V8SSC632U
SP - 461
EP - 468
VL - 15
IS - 6
DP - DeepDyve
ER -