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Chromosomes, Human

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De novo prediction of human chromosome structures: Epigenetic marking patterns encode genome architecture.

Proceedings of the National Academy of Sciences of the United States of America
Inside the cell nucleus, genomes fold into organized structures that are characteristic of cell type. Here, we show that this chromatin architecture can be predicted de novo using epigenetic data derived from chromatin immunoprecipitation-sequencing ...

DeepSV: accurate calling of genomic deletions from high-throughput sequencing data using deep convolutional neural network.

BMC bioinformatics
BACKGROUND: Calling genetic variations from sequence reads is an important problem in genomics. There are many existing methods for calling various types of variations. Recently, Google developed a method for calling single nucleotide polymorphisms (...

Mb-level CpG and TFBS islands visualized by AI and their roles in the nuclear organization of the human genome.

Genes & genetic systems
Unsupervised machine learning that can discover novel knowledge from big sequence data without prior knowledge or particular models is highly desirable for current genome study. We previously established a batch-learning self-organizing map (BLSOM) f...

Identification of an epigenetic signature in human induced pluripotent stem cells using a linear machine learning model.

Human cell
The use of human induced pluripotent stem cells (iPSCs), used as an alternative to human embryonic stem cells (ESCs), is a potential solution to challenges, such as immune rejection, and does not involve the ethical issues concerning the use of ESCs ...

Evaluation of a genetic risk score for severity of COVID-19 using human chromosomal-scale length variation.

Human genomics
INTRODUCTION: The course of COVID-19 varies from asymptomatic to severe in patients. The basis for this range in symptoms is unknown. One possibility is that genetic variation is partly responsible for the highly variable response. We evaluated how w...

Feasibility Study on Automatic Interpretation of Radiation Dose Using Deep Learning Technique for Dicentric Chromosome Assay.

Radiation research
The interpretation of radiation dose is an important procedure for both radiological operators and persons who are exposed to background or artificial radiations. Dicentric chromosome assay (DCA) is one of the representative methods of dose estimatio...

Dicentric chromosome assay using a deep learning-based automated system.

Scientific reports
The dicentric chromosome assay is the "gold standard" in biodosimetry for estimating radiation exposure. However, its large-scale deployment is limited owing to its time-consuming nature and requirement for expert reviewers. Therefore, a recently dev...

Homo Sapiens Chromosomal Location Ontology: A Framework for Genomic Data in Biomedical Knowledge Graphs.

Scientific data
The Homo sapiens Chromosomal Location Ontology (HSCLO) is designed to facilitate the integration of human genomic features into biomedical knowledge graphs from releases GRCh37 and GRCh38 at multiple resolutions. HSCLO comprises two distinct versions...