Toward identification of functional sequences and variants in noncoding DNA
Understanding the noncoding part of the genome, which encodes gene regulation, is
necessary to identify genetic mechanisms of disease and translate findings from genome …
necessary to identify genetic mechanisms of disease and translate findings from genome …
Deep learning of genomic variation and regulatory network data
The human genome is now investigated through high-throughput functional assays, and
through the generation of population genomic data. These advances support the …
through the generation of population genomic data. These advances support the …
Predicting effects of noncoding variants with deep learning–based sequence model
J Zhou, OG Troyanskaya - Nature methods, 2015 - nature.com
Identifying functional effects of noncoding variants is a major challenge in human genetics.
To predict the noncoding-variant effects de novo from sequence, we developed a deep …
To predict the noncoding-variant effects de novo from sequence, we developed a deep …
Functional interpretation of genetic variants using deep learning predicts impact on chromatin accessibility and histone modification
Identifying functional variants underlying disease risk and adoption of personalized
medicine are currently limited by the challenge of interpreting the functional consequences …
medicine are currently limited by the challenge of interpreting the functional consequences …
Regulatory variants: from detection to predicting impact
E Rojano, P Seoane, JAG Ranea… - Briefings in …, 2019 - academic.oup.com
Variants within non-coding genomic regions can greatly affect disease. In recent years,
increasing focus has been given to these variants, and how they can alter regulatory …
increasing focus has been given to these variants, and how they can alter regulatory …
De novo pattern discovery enables robust assessment of functional consequences of non-coding variants
Motivation Given the complexity of genome regions, prioritize the functional effects of non-
coding variants remains a challenge. Although several frameworks have been proposed for …
coding variants remains a challenge. Although several frameworks have been proposed for …
Human Molecular Genetics Review Issue 2022
F Cheng, D Geschwind - Human Molecular Genetics, 2022 - academic.oup.com
Recent remarkable advances in high-throughput genotyping and next-generation DNA-
sequencing technologies have generated massive human genome sequencing datasets …
sequencing technologies have generated massive human genome sequencing datasets …
Challenges and progress in interpretation of non-coding genetic variants associated with human disease
Genome-wide association studies have shown that the far majority of disease-associated
variants reside in the non-coding regions of the genome, suggesting that gene regulatory …
variants reside in the non-coding regions of the genome, suggesting that gene regulatory …
Finding Needles in the Haystack: Strategies for Uncovering Noncoding Regulatory Variants
Despite accumulating evidence implicating noncoding variants in human diseases,
unraveling their functionality remains a significant challenge. Systematic annotations of the …
unraveling their functionality remains a significant challenge. Systematic annotations of the …
GREEN-DB: a framework for the annotation and prioritization of non-coding regulatory variants from whole-genome sequencing data
Non-coding variants have long been recognized as important contributors to common
disease risks, but with the expansion of clinical whole genome sequencing, examples of …
disease risks, but with the expansion of clinical whole genome sequencing, examples of …