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Chromosome Structures

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Detection of chromosome structural variation by targeted next-generation sequencing and a deep learning application.

Scientific reports
Molecular testing is increasingly important in cancer diagnosis. Targeted next generation sequencing (NGS) is widely accepted method but structural variation (SV) detection by targeted NGS remains challenging. In the brain tumor, identification of mo...

Reconstructing 3D chromosome structures from single-cell Hi-C data with SO(3)-equivariant graph neural networks.

NAR genomics and bioinformatics
The spatial conformation of chromosomes and genomes of single cells is relevant to cellular function and useful for elucidating the mechanism underlying gene expression and genome methylation. The chromosomal contacts (i.e. chromosomal regions in spa...