A universal SNP and small-indel variant caller using deep neural networks-Reference-Cited by-同舟云学术

A universal SNP and small-indel variant caller using deep neural networks

Published:2018-09-24 Issue:10 Volume:36 Page:983-987
ISSN:1087-0156
Container-title:Nature Biotechnology
language:en
Short-container-title:Nat Biotechnol

Author:

Poplin Ryan,Chang Pi-Chuan,Alexander David,Schwartz Scott,Colthurst Thomas,Ku Alexander,Newburger Dan,Dijamco Jojo,Nguyen Nam,Afshar Pegah T,Gross Sam S,Dorfman Lizzie,McLean Cory Y,DePristo Mark A

Publisher

Springer Science and Business Media LLC

Subject

Biomedical Engineering,Molecular Medicine,Applied Microbiology and Biotechnology,Bioengineering,Biotechnology

Link

http://www.nature.com/articles/nbt.4235.pdf

Reference38 articles.

1. Goodwin, S., McPherson, J.D. & McCombie, W.R. Coming of age: ten years of next-generation sequencing technologies. Nat. Rev. Genet. 17, 333–351 (2016).

2. Nielsen, R., Paul, J.S., Albrechtsen, A. & Song, Y.S. Genotype and SNP calling from next-generation sequencing data. Nat. Rev. Genet. 12, 443–451 (2011).

3. Li, H. Towards better understanding of artifacts in variant calling from high-coverage samples. Bioinformatics 30, 2843–2851 (2014).

4. Goldfeder, R.L. et al. Medical implications of technical accuracy in genome sequencing. Genome Med. 8, 24 (2016).

5. DePristo, M.A. et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat. Genet. 43, 491–498 (2011).

Cited by 959 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. AI-guided identification of risk variants for adrenocortical tumours in TP53 p.R337H carrier children: a genetic association study;The Lancet Regional Health - Americas;2024-10

2. Personalized pangenome references;Nature Methods;2024-09-11

3. The genetic basis of the kākāpō structural color polymorphism suggests balancing selection by an extinct apex predator;PLOS Biology;2024-09-10

4. Reliable machine learning models in genomic medicine using conformal prediction;2024-09-10

5. Benchmarking reveals superiority of deep learning variant callers on bacterial nanopore sequence data;2024-09-05