Haplotype-aware variant calling enables high accuracy in nanopore long-reads using deep neural networks
Kishwar Shafin(Google (United States)), Benedict Paten(University of California, Santa Cruz), Karen H. Miga(University of California, Santa Cruz), Jordan M. Eizenga(University of California, Santa Cruz), Pi-Chuan Chang(Google (United States)), Trevor Pesout(University of California, Santa Cruz), Alexey Kolesnikov(Google (United States)), P. Carnevali(Chan Zuckerberg Initiative (United States)), Maria Nattestad(Google (United States)), Andrew J. Carroll(University of Alabama at Birmingham), Miten Jain(Northeastern University), Sidharth Goel(Google (United States)), Gunjan Baid(University of Bío-Bío)
Cited by 32
Related Papers
The complete sequence of a human genome
|Science|2022|3.3k
Nanopore sequencing and assembly of a human genome with ultra-long reads
|Nature Biotechnology|2018|2.1k
Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome
|Nature Biotechnology|2019|2k
A universal SNP and small-indel variant caller using deep neural networks
|Nature Biotechnology|2018|2k
Targetable Kinase-Activating Lesions in Ph-like Acute Lymphoblastic Leukemia
|New England Journal of Medicine|2014|1.4k