AIMC Topic: Sequence Analysis, DNA

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Discovering differential genome sequence activity with interpretable and efficient deep learning.

PLoS computational biology
Discovering sequence features that differentially direct cells to alternate fates is key to understanding both cellular development and the consequences of disease related mutations. We introduce Expected Pattern Effect and Differential Expected Patt...

iEnhancer-RD: Identification of enhancers and their strength using RKPK features and deep neural networks.

Analytical biochemistry
Enhancers are regulatory elements involved in gene expression.It is a part of DNA, which can enhance the transcription rate of gene. However, the identification of enhancer by biological experimental methods is time-consuming and expensive. Therefore...

A deep learning model for predicting next-generation sequencing depth from DNA sequence.

Nature communications
Targeted high-throughput DNA sequencing is a primary approach for genomics and molecular diagnostics, and more recently as a readout for DNA information storage. Oligonucleotide probes used to enrich gene loci of interest have different hybridization...

Analysis of DNA Sequence Classification Using CNN and Hybrid Models.

Computational and mathematical methods in medicine
In a general computational context for biomedical data analysis, DNA sequence classification is a crucial challenge. Several machine learning techniques have used to complete this task in recent years successfully. Identification and classification o...

Gene Position Index Mutation Detection Algorithm Based on Feedback Fast Learning Neural Network.

Computational intelligence and neuroscience
In the detection of genome variation, the research on the internal correlation of reference genome is deepening; the detection of variation in genome sequence has become the focus of research, and it has also become an effective path to find new gene...

Ultrasensitive detection of circulating tumour DNA via deep methylation sequencing aided by machine learning.

Nature biomedical engineering
The low abundance of circulating tumour DNA (ctDNA) in plasma samples makes the analysis of ctDNA biomarkers for the detection or monitoring of early-stage cancers challenging. Here we show that deep methylation sequencing aided by a machine-learning...

Using deep learning to identify recent positive selection in malaria parasite sequence data.

Malaria journal
BACKGROUND: Malaria, caused by Plasmodium parasites, is a major global public health problem. To assist an understanding of malaria pathogenesis, including drug resistance, there is a need for the timely detection of underlying genetic mutations and ...

DNAscent v2: detecting replication forks in nanopore sequencing data with deep learning.

BMC genomics
BACKGROUND: Measuring DNA replication dynamics with high throughput and single-molecule resolution is critical for understanding both the basic biology behind how cells replicate their DNA and how DNA replication can be used as a therapeutic target f...

MetaVelvet-DL: a MetaVelvet deep learning extension for de novo metagenome assembly.

BMC bioinformatics
BACKGROUND: The increasing use of whole metagenome sequencing has spurred the need to improve de novo assemblers to facilitate the discovery of unknown species and the analysis of their genomic functions. MetaVelvet-SL is a short-read de novo metagen...

Feasibility of predicting allele specific expression from DNA sequencing using machine learning.

Scientific reports
Allele specific expression (ASE) concerns divergent expression quantity of alternative alleles and is measured by RNA sequencing. Multiple studies show that ASE plays a role in hereditary diseases by modulating penetrance or phenotype severity. Howev...