(Q91682050)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30247488%20AND%20SRC:MED&resulttype=core&format=json

24 April 2020

title

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

1 reference

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24 April 2020

1 reference

1

Ryan Poplin

1 reference

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24 April 2020

author name string

Pi-Chuan Chang

2

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24 April 2020

David Alexander

3

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24 April 2020

Scott Schwartz

4

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24 April 2020

Thomas Colthurst

5

1 reference

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24 April 2020

Alexander Ku

6

1 reference

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24 April 2020

Dan Newburger

7

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24 April 2020

Jojo Dijamco

8

1 reference

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24 April 2020

Nam Nguyen

9

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24 April 2020

Pegah T Afshar

10

1 reference

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24 April 2020

Sam S Gross

11

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24 April 2020

Lizzie Dorfman

12

1 reference

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24 April 2020

Cory Y McLean

13

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24 April 2020

Mark A DePristo

14

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24 April 2020

publication date

24 September 2018

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24 April 2020

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24 April 2020

volume

36

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24 April 2020

issue

10

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24 April 2020

page(s)

983-987

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Coming of age: ten years of next-generation sequencing technologies

24 April 2020

cites work

1 reference

7 January 2021

Genotype and SNP calling from next-generation sequencing data

1 reference

7 January 2021

Toward better understanding of artifacts in variant calling from high-coverage samples

1 reference

7 January 2021

Medical implications of technical accuracy in genome sequencing

1 reference

7 January 2021

A framework for variation discovery and genotyping using next-generation DNA sequencing data

1 reference

7 January 2021

Feature-based classifiers for somatic mutation detection in tumour-normal paired sequencing data

1 reference

7 January 2021

Shining a light on dark sequencing: characterising errors in Ion Torrent PGM data

1 reference

7 January 2021

Evaluation and optimisation of indel detection workflows for ion torrent sequencing of the BRCA1 and BRCA2 genes

1 reference

7 January 2021

Mastering the game of Go with deep neural networks and tree search

1 reference

7 January 2021

Human-level control through deep reinforcement learning

1 reference

7 January 2021

Predicting the sequence specificities of DNA- and RNA-binding proteins by deep learning

1 reference

7 January 2021

Predicting effects of noncoding variants with deep learning-based sequence model

1 reference

7 January 2021

RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease

1 reference

7 January 2021

A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree

1 reference

7 January 2021

Mapping short DNA sequencing reads and calling variants using mapping quality scores

1 reference

7 January 2021

SNP detection for massively parallel whole-genome resequencing

1 reference

7 January 2021

Multilayer feedforward networks are universal approximators

1 reference

7 January 2021

The Sequence Alignment/Map format and SAMtools

1 reference

7 January 2021

16GT: a fast and sensitive variant caller using a 16-genotype probabilistic model

1 reference

7 January 2021

Strelka2: Fast and accurate variant calling for clinical sequencing applications

1 reference

7 January 2021

Mouse genomic variation and its effect on phenotypes and gene regulation

1 reference

7 January 2021

Analysis of protein-coding genetic variation in 60,706 humans

1 reference

7 January 2021

A global reference for human genetic variation

1 reference

7 January 2021

The role of replicates for error mitigation in next-generation sequencing

1 reference

7 January 2021

Clairvoyante: a multi-task convolutional deep neural network for variant calling in Single Molecule Sequencing

1 reference

7 January 2021

Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls

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7 January 2021

Identifiers

DOI

10.1038/NBT.4235

1 reference

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24 April 2020

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