There are 2 repositories under karyotype topic.
Snakemake workflow for Illumina RNA-sequencing experiments - extract population genomic signals from RNA-Seq data
CNAqc - Copy Number Alteration (CNA) Quality Check package
Banding pattern extraction and banding pattern segmentation mask generation for stained banded chromosome images.
Machine Learning (ML) research within medicine and healthcare represents one of the most challenging domains for both engineers and medical specialists. One of the most desired tasks to be accomplished using ML applications is represented by disease detection. A good example of such a task is the detection of genetic abnormalities like Down syndrome, Klinefelter syndrome or Hemophilia. Usually, clinicians are doing chromosome analysis using the karyotype to detect such disorders. The main contribution of the current article consists of introducing a new approach called KaryML Framework, which is extending our previous research: KarySOM: An Unsupervised Learning based Approach for Human Karyotyping using Self-Organizing Maps . Our major goal is to provide a new method for an automated karyotyping system using unsupervised techniques. Additionally, we provide computational methods for chromosome feature extraction and to develop an intelligent system designed to aid clinicians during the karyotyping process.
A mosaic genome painting tool for plant genomes
A javascript library to generate SVG based ideograms of chromosomes showing cytogenetic bands
Overlapped chromosome segmentation
Biojviz ideogram element
Biojviz karyotype viewer element