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Table 6 Deep learning algorithms in genomics and their original development and applications

From: A review of deep learning applications in human genomics using next-generation sequencing data

ANN Algorithms

Natural Language Processing (NLP)

Feedforward neural network

Convolutional neural network (CNN)

Recurrent neural networks (RNNs)

Bidirectional long short-term memory networks (BLSTMs)

Long short-term memory networks (LSTMs)

Gated recurrent unit (GRU)

Algorithm Inventor

Applied in dictionary look-up system developed at Birkbeck College, London

Frank Rosenblatt

It was named as “neocognitron “ by Fukushima

Rumelhart, Hinton and Williams

Schuster and Paliwal

Hochreiter and Schmidhuber

Cho et al

Year of Development

1948

1958

1980

1986

1997

1997

2014

Year of Initial Genomics’ Function

1996

1993

2015

2005

2015

2015

2017

First User in Genomics

Schuler et al

S Eskiizmililer

Alipanahi et al

Maraziotis, Dragomir and Bezerianos

Quang and Xie

Quang and Xie

Angermueller et al

First Genomic Application

Entrez databases

Karyotyping architecture based on Artificial Neural Networks

DeepBind

Predicting the complicated causative associations between genes from microarray datasets based on recurrent neuro-fuzzy technique

DanQ model

DanQ model

DeepCpG

Genomic Function Exemplar(s)

Genetic counsellors AI-based chatbots and EPIs prediction

Karyotyping, Prenatal diagnostic for early detection of aneuploidy syndrome

Prediction of variant impacts on expression and disease risk, predicting drug response of tumours from genomic profiles, and pharmacogenomics

Predicting transcription factor binding sites, for Alignment and SNV identification

DNA function predictions and prediction of protein localisation, predict miRNA precursor

Enhancer–promoter interaction (EPI) prediction

Enhancers and methylation states predictions

Landmark References

[128, 169, 170]

[171,172,173]

[97, 111, 174,175,176]

[24, 116, 118, 177, 178]

[122, 123, 179, 180]

[16, 121, 123]

[126, 181]