Prioritizing non-coding regions based on human genomic constraint and sequence context with deep learning

Prioritizing non-coding regions based on human genomic constraint and sequence context with deep learning

Intolerance to variation is a strong indicator of disease relevance for coding regions of the human genome. Here, the authors present JARVIS, a deep learning method integrating intolerance to variation in non-coding regions and sequence-specific annotations to infer non-coding variant pathogenicity.

Bibliographic Details
Main Authors: Dimitrios Vitsios, Ryan S. Dhindsa, Lawrence Middleton, Ayal B. Gussow, Slavé Petrovski
Format: Article
Language:English
Published: Nature Publishing Group 2021-03-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-021-21790-4
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spelling doaj-4a6d20095a0b4f49bb6cbd6b031c99c82021-03-11T11:30:59ZengNature Publishing GroupNature Communications2041-17232021-03-0112111410.1038/s41467-021-21790-4Prioritizing non-coding regions based on human genomic constraint and sequence context with deep learningDimitrios Vitsios0Ryan S. Dhindsa1Lawrence Middleton2Ayal B. Gussow3Slavé Petrovski4Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZenecaCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZenecaCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZenecaNational Center for Biotechnology Information, National Library of MedicineCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZenecaIntolerance to variation is a strong indicator of disease relevance for coding regions of the human genome. Here, the authors present JARVIS, a deep learning method integrating intolerance to variation in non-coding regions and sequence-specific annotations to infer non-coding variant pathogenicity.https://doi.org/10.1038/s41467-021-21790-4
collection DOAJ
language English
format Article
sources DOAJ
author Dimitrios Vitsios
Ryan S. Dhindsa
Lawrence Middleton
Ayal B. Gussow
Slavé Petrovski
spellingShingle Dimitrios Vitsios
Ryan S. Dhindsa
Lawrence Middleton
Ayal B. Gussow
Slavé Petrovski
Prioritizing non-coding regions based on human genomic constraint and sequence context with deep learning
Nature Communications
author_facet Dimitrios Vitsios
Ryan S. Dhindsa
Lawrence Middleton
Ayal B. Gussow
Slavé Petrovski
author_sort Dimitrios Vitsios
title Prioritizing non-coding regions based on human genomic constraint and sequence context with deep learning
title_short Prioritizing non-coding regions based on human genomic constraint and sequence context with deep learning
title_full Prioritizing non-coding regions based on human genomic constraint and sequence context with deep learning
title_fullStr Prioritizing non-coding regions based on human genomic constraint and sequence context with deep learning
title_full_unstemmed Prioritizing non-coding regions based on human genomic constraint and sequence context with deep learning
title_sort prioritizing non-coding regions based on human genomic constraint and sequence context with deep learning
publisher Nature Publishing Group
series Nature Communications
issn 2041-1723
publishDate 2021-03-01
description Intolerance to variation is a strong indicator of disease relevance for coding regions of the human genome. Here, the authors present JARVIS, a deep learning method integrating intolerance to variation in non-coding regions and sequence-specific annotations to infer non-coding variant pathogenicity.
url https://doi.org/10.1038/s41467-021-21790-4
work_keys_str_mv AT dimitriosvitsios prioritizingnoncodingregionsbasedonhumangenomicconstraintandsequencecontextwithdeeplearning
AT ryansdhindsa prioritizingnoncodingregionsbasedonhumangenomicconstraintandsequencecontextwithdeeplearning
AT lawrencemiddleton prioritizingnoncodingregionsbasedonhumangenomicconstraintandsequencecontextwithdeeplearning
AT ayalbgussow prioritizingnoncodingregionsbasedonhumangenomicconstraintandsequencecontextwithdeeplearning
AT slavepetrovski prioritizingnoncodingregionsbasedonhumangenomicconstraintandsequencecontextwithdeeplearning
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