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Items: 3

1.

Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome.

Wenger AM, Peluso P, Rowell WJ, Chang PC, Hall RJ, Concepcion GT, Ebler J, Fungtammasan A, Kolesnikov A, Olson ND, Töpfer A, Alonge M, Mahmoud M, Qian Y, Chin CS, Phillippy AM, Schatz MC, Myers G, DePristo MA, Ruan J, Marschall T, Sedlazeck FJ, Zook JM, Li H, Koren S, Carroll A, Rank DR, Hunkapiller MW.

Nat Biotechnol. 2019 Aug 12. doi: 10.1038/s41587-019-0217-9. [Epub ahead of print]

PMID:
31406327
2.

Haplotype-aware diplotyping from noisy long reads.

Ebler J, Haukness M, Pesout T, Marschall T, Paten B.

Genome Biol. 2019 Jun 3;20(1):116. doi: 10.1186/s13059-019-1709-0.

3.

Genotyping inversions and tandem duplications.

Ebler J, Schönhuth A, Marschall T.

Bioinformatics. 2017 Dec 15;33(24):4015-4023. doi: 10.1093/bioinformatics/btx020.

PMID:
28169394

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