Finding Needles in the Haystack: Strategies for Uncovering Noncoding Regulatory Variants.

Chen, You; Paramo, Mauricio I; Zhang, Yingying; Yao, Li; Shah, Sagar R; Jin, Yiyang; Zhang, Junke; Pan, Xiuqi; Yu, Haiyuan

Chen, You; Paramo, Mauricio I; Zhang, Yingying; Yao, Li; Shah, Sagar R; Jin, Yiyang; Zhang, Junke; Pan, Xiuqi; Yu, Haiyuan.

Afiliação

Chen Y; Department of Molecular Biology and Genetics, Cornell University, Ithaca, New York, USA.
Paramo MI; Weill Institute for Cell and Molecular Biology, Cornell University, Ithaca, New York, USA; email: haiyuan.yu@cornell.edu.
Zhang Y; Department of Molecular Biology and Genetics, Cornell University, Ithaca, New York, USA.
Yao L; Weill Institute for Cell and Molecular Biology, Cornell University, Ithaca, New York, USA; email: haiyuan.yu@cornell.edu.
Shah SR; Department of Molecular Biology and Genetics, Cornell University, Ithaca, New York, USA.
Jin Y; Weill Institute for Cell and Molecular Biology, Cornell University, Ithaca, New York, USA; email: haiyuan.yu@cornell.edu.
Zhang J; Weill Institute for Cell and Molecular Biology, Cornell University, Ithaca, New York, USA; email: haiyuan.yu@cornell.edu.
Pan X; Department of Computational Biology, Cornell University, Ithaca, New York, USA.
Yu H; Department of Molecular Biology and Genetics, Cornell University, Ithaca, New York, USA.

Annu Rev Genet ; 57: 201-222, 2023 11 27.

Article em En | MEDLINE | ID: mdl-37562413

ABSTRACT

ABSTRACT

Despite accumulating evidence implicating noncoding variants in human diseases, unraveling their functionality remains a significant challenge. Systematic annotations of the regulatory landscape and the growth of sequence variant data sets have fueled the development of tools and methods to identify causal noncoding variants and evaluate their regulatory effects. Here, we review the latest advances in the field and discuss potential future research avenues to gain a more in-depth understanding of noncoding regulatory variants.

Assuntos

Predisposição Genética para Doença; Variação Genética; Humanos; Variação Genética/genética; Estudo de Associação Genômica Ampla/métodos; Polimorfismo de Nucleotídeo Único/genética

Palavras-chave

GWAS; enhancer; functional assay; machine learning; noncoding variant; rare-variant association test

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Predisposição Genética para Doença Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: Annu Rev Genet Ano de publicação: 2023 Tipo de documento: Article

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