Haplotype-aware diplotyping from noisy long reads

Author:

Ebler Jana,Haukness Marina,Pesout Trevor,Marschall TobiasORCID,Paten Benedict

Funder

National Human Genome Research Institute

W. M. Keck Foundation

Deutsche Forschungsgemeinschaft

Publisher

Springer Science and Business Media LLC

Reference51 articles.

1. Van der Auwera GA, Carneiro MO, Hartl C, Poplin R, Del Angel G, Levy-Moonshine A, Jordan T, Shakir K, Roazen D, Thibault J, et al.From FastQ data to high-confidence variant calls: the genome analysis toolkit best practices pipeline. Curr Protoc Bioinforma. 2013; 43(1):11–0.

2. 1000 Genomes Project Consortium. A global reference for human genetic variation. Nature. 2015; 526(7571):68.

3. Li W, Freudenberg J. Mappability and read length. Front Genet. 2014; 5:381.

4. Altemose N, Miga KH, Maggioni M, Willard HF. Genomic characterization of large heterochromatic gaps in the human genome assembly. PLoS Comput Biol. 2014; 10(5):1003628.

5. Porubsky D, Garg S, Sanders AD, Korbel JO, Guryev V, Lansdorp PM, Marschall T. Dense and accurate whole-chromosome haplotyping of individual genomes. Nat Commun. 2017; 8(1):1293.

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