Chromosome Analysis or Karyotyping is done to find
- Abnormalities such as birth defects/genetic diseases etc.
- Structural Inconsistencies
Laboratory process:
- Take Sample of Your Cells
- Sample placed in a laboratory dish that allows the cells to grow.
- Stain the cells.
- Observe Under a Microscope (Metaphase)
- Chromosomal suspension is dropped onto slides and stained which results in a kind of banding pattern (what we get is called a metaphase spread)
You should get 46 chromosomes. Two of these chromosomes are sex chromosomes (determine the sex of the person being tested). Females - XX, Males - XY The other 44 are called autosomes.
Problem Statement:
Grouping/Rearranging the chromsomes from the metaphase into 23+1 Classes (As Below)
Data Science Initiative:
- Process Metaphase
- Extract Individual Chromsomes (OPENCV - Python)
- Orientation & Feature Extraction (Image Processing & Cleaning)
Features Extracted
Length | Area | Banding Profile | Centromere's Location (& Length of both arms ) |
---|---|---|---|
in Pixels | in Pixels |
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Modeling (Machine Learning)
Nested Support Vector Machines - 17 Years of Historical Data of Patients ( Metaphases & Karyotyped Training Data) - After Extracting features from the all chromosomes, feeding them into a two-layer support vector machines. - First layer classifies them into 'bigger classes'.
- Second layer classifes the chromosomes from those 'bigger classes' to individual classes 1-24.
-
Prediction
Achieved a Prediction Accuracy of 86% Various other methods such as CNNs, Deep networks were tested. (Please contact me personally for code)