Exploring noncoding variants in genetic diseases: from detection to functional insights-Reference-Cited by-同舟云学术

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Exploring noncoding variants in genetic diseases: from detection to functional insights

Published:2024-02 Issue:2 Volume:51 Page:111-132
ISSN:1673-8527
Container-title:Journal of Genetics and Genomics
language:en
Short-container-title:Journal of Genetics and Genomics

Author:

Wu Ke^ORCID,Bu Fengxiao,Wu Yang^ORCID,Zhang Gen,Wang Xin^ORCID,He Shunmin,Liu Mo-Fang,Chen Runsheng^ORCID,Yuan Huijun

Funder

National Key Research and Development Program of China

Sichuan University West China Hospital

Sichuan Province Science and Technology Support Program

Sichuan University

Publisher

Elsevier BV

Reference286 articles.

1. The dawn of non-human primate models for neurodevelopmental disorders;Aida;Curr. Opin. Genet. Dev.,2020

2. Discovery of drug-omics associations in type 2 diabetes with generative deep-learning models;Allesoe;Nat. Biotechnol.,2023

3. Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator;Allou;Nature,2021

4. SNPDelScore: combining multiple methods to score deleterious effects of noncoding mutations in the human genome;Alvarez;Bioinformatics,2018

5. Transcriptome and epigenome landscape of human cortical development modeled in organoids;Amiri;Science,2018

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1. Chinese patients with adult onset leukodystrophy caused by CST3 variants;J GENET GENOMICS;2024

2. Chinese patients with adult onset leukodystrophy caused by CST3 variants;Journal of Genetics and Genomics;2024-07

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4. AI in Neurodegeneration Prediction;Advances in Medical Technologies and Clinical Practice;2024-06-28

5. CBGDA: a manually curated resource for gene–disease associations based on genome-wide CRISPR;Database;2024

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