AI Article Synopsis
- Next-generation sequencing (NGS) revolutionized our understanding of genome structure by allowing for detailed analysis of genetic information.
- Bioinformatic tools are essential for processing the vast amount of data generated by NGS and for studying the 3D organization of chromosomes.
- The chapter discusses how to use various online data browsers to examine 3D chromatin changes related to chromosomal rearrangements, like chromothripsis, and assess their effects on clinical outcomes and gene expression.
Article Abstract
Apparition of next-generation sequencing (NGS) was a breakthrough on knowledge of genome structure. Bioinformatic tools are a key point to analyze this huge amount of data from NGS and characterize the three-dimensional organization of chromosomes. This chapter describes usage of different browsers to explore publicly available online data and to search for possible 3D chromatin changes involved during complex chromosomal rearrangements as chromothripsis. Their pathogenic impact on clinical phenotype and gene misexpression can also be evaluated with annotated databases.
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| http://dx.doi.org/10.1007/978-1-4939-7780-2_22 | DOI Listing |
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