Article

Deep SNP: An End-to-end Deep Neural Network with Attention-based Localization for Break-point Detection in SNP Array Genomic data

2018-06-24

Abstract excerpt

Diagnosis and risk stratification of cancer and many other diseases require the detection of genomic breakpoints as a prerequisite of calling copy number alterations (CNA). This, however, is still challenging and requires time-consuming manual curation. As deep-learning methods outperformed classical state-of-the-art algorithms in various domains and have also been successfully applied to life science problems inc...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 2a7fa818-392c-5fd1-a71e-d85fd048c386
DOI: 10.1101/354423

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Deep SNP: An End-to-end Deep Neural Network with Attention-based Localization for Break-point Detection in SNP Array Genomic dataDOI 10.1101/354423Read

NanoCaller for accurate detection of SNPs and indels in difficult-to-map regions from long-read sequencing by haplotype-aware deep neural networksSemantic proximity Read

NanoCaller for accurate detection of SNPs and indels in difficult-to-map regions from long-read sequencing by haplotype-aware deep neural networks.Semantic proximity Read

Creating a universal SNP and small indel variant caller with deep neural networksSemantic proximity Read

Systematic prediction and validation of breakpoints associated with copy-number variants in the human genome.Semantic proximity Read

Deep Learning Approach to Genomic Breakage Study from Primary SequenceSemantic proximity Read

A comprehensive review of deep learning-based variant calling methods.Semantic proximity Read

sv-channels: filtering genomic deletions using one-dimensional convolutional neural networksSemantic proximity Read

GeneBreak: detection of recurrent DNA copy number aberration-associated chromosomal breakpoints within genesSemantic proximity Read

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

Estimation and assessment of raw copy numbers at the single locus level.Semantic proximity Read

Using Deep Learning for Gene Detection and Classification in Raw Nanopore SignalsSemantic proximity Read

Learning smoothing models of copy number profiles using breakpoint annotationsSemantic proximity Read