Identification of somatic mutation-driven enhancers and their clinical utility in breast cancer

Zhao, Hongying; Feng, Ke; Lei, Junjie; Shu, Yaopeng; Bo, Lin; Liu, Ying; Wang, Lixia; Liu, Wangyang; Ning, Shangwei; Wang, Li

doi:10.1016/j.isci.2024.108780

Cited by 1 publication

(1 citation statement)

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“…Mutations in regulatory elements within non-coding regions lead to changes in gene expression, which can significantly impact phenotypic manifestations and disease development. For instance, mutations in promotors, enhancers, or silencers can affect the binding of transcription factors and alter the expression levels of specific genes, resulting in disease development [ 20 , 21 ]. Detecting variants in regulatory regions through WGS provides the opportunity to identify new variants as causes of genetic diseases in children, in which previous analyses failed to establish a cause in coding DNA.…”

Section: Introduction To Whole Genome Sequencing (Wgs)mentioning

confidence: 99%

Implementing Whole Genome Sequencing (WGS) in Clinical Practice: Advantages, Challenges, and Future Perspectives

Brlek,

Bulić,

Bračić

et al. 2024

Cells

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The integration of whole genome sequencing (WGS) into all aspects of modern medicine represents the next step in the evolution of healthcare. Using this technology, scientists and physicians can observe the entire human genome comprehensively, generating a plethora of new sequencing data. Modern computational analysis entails advanced algorithms for variant detection, as well as complex models for classification. Data science and machine learning play a crucial role in the processing and interpretation of results, using enormous databases and statistics to discover new and support current genotype–phenotype correlations. In clinical practice, this technology has greatly enabled the development of personalized medicine, approaching each patient individually and in accordance with their genetic and biochemical profile. The most propulsive areas include rare disease genomics, oncogenomics, pharmacogenomics, neonatal screening, and infectious disease genomics. Another crucial application of WGS lies in the field of multi-omics, working towards the complete integration of human biomolecular data. Further technological development of sequencing technologies has led to the birth of third and fourth-generation sequencing, which include long-read sequencing, single-cell genomics, and nanopore sequencing. These technologies, alongside their continued implementation into medical research and practice, show great promise for the future of the field of medicine.

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Section: Introduction To Whole Genome Sequencing (Wgs)mentioning

confidence: 99%