Prioritizing long range interactions in noncoding regions using GWAS and deletions perturbed TADs

Liu, Xuanshi; Xu, Wenjian; Leng, Fei; Hao, Chanjuan; Kolora, Sree Rohit Raj; Wei, Li

doi:10.1016/j.csbj.2020.10.014

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The Roles Of Snps Inside the Regulatory Elements1

Asd and Big Genomics Data1

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2022

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“…[39][40][41] The SNP sites in the lncRNA sequence can damage the binding of protein to the lncRNA, resulting in the abnormal activity of the promoter that is lncRNA-mediated, and then induce the disordered expression of the target gene. 30,[42][43][44] Last but not the least, SNP mutations can destroy the expression of genes by altering the structures of topologically associating domains (TADs) [45][46][47][48] or disrupting tandem repeats. 49 Given the complexity of the regulatory…”

Section: The Roles Of Snps Inside the Regulatory Elementsmentioning

confidence: 99%

Strategies for activity analysis of single nucleotide polymorphisms associated with human diseases

Ren

Dai

et al. 2022

Clinical Genetics

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Section: The Roles Of Snps Inside the Regulatory Elementsmentioning

confidence: 99%

Strategies for activity analysis of single nucleotide polymorphisms associated with human diseases

Ren

Dai

et al. 2022

Clinical Genetics

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“…The identified SVs often need additional methods for further refinement. A method that adopted the idea that SVs lead to long-range interactions has been developed in our lab [ 57 ]. A similar method that took advantage of known disease-related SVs is used to refine the list of candidate SVs [ 58 ].…”

Section: Asd and Big Genomics Datamentioning

confidence: 99%

Biological implications of genetic variations in autism spectrum disorders from genomics studies

et al. 2021

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Autism spectrum disorders (ASD) is a highly heterogeneous neurodevelopmental condition characterized by atypical social interaction and communication together with repetitive behaviors and restricted interests. The prevalence of ASD has been increased these years. Compelling evidence has shown that genetic factors contribute largely to the development of ASD. However, knowledge about its genetic etiology and pathogenesis is limited. Broad applications of genomics studies have revealed the importance of gene mutations at protein-coding regions as well as the interrupted non-coding regions in the development of ASD. In this review, we summarize the current evidence for the known molecular genetic basis and possible pathological mechanisms as well as the risk genes and loci of ASD. Functional studies for the underlying mechanisms are also implicated. The understanding of the genetics and genomics of ASD is important for the genetic diagnosis and intervention for this condition.

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Prioritizing long range interactions in noncoding regions using GWAS and deletions perturbed TADs

Abstract: Graphical abstract

Cited by 2 publications

References 43 publications

Strategies for activity analysis of single nucleotide polymorphisms associated with human diseases

Strategies for activity analysis of single nucleotide polymorphisms associated with human diseases

Biological implications of genetic variations in autism spectrum disorders from genomics studies

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