@article {37,
	title = {Accurate detection of complex structural variations using single-molecule sequencing.},
	journal = {Nat Methods},
	volume = {15},
	year = {2018},
	month = {2018 06},
	pages = {461-468},
	abstract = {<p>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.</p>},
	keywords = {DNA Mutational Analysis, Genome, Human, Genomics, High-Throughput Nucleotide Sequencing, Humans, Sequence Analysis, DNA},
	issn = {1548-7105},
	doi = {10.1038/s41592-018-0001-7},
	author = {Sedlazeck, Fritz J and Rescheneder, Philipp and Smolka, Moritz and Fang, Han and Nattestad, Maria and von Haeseler, Arndt and Schatz, Michael C}
}
