deepsvr

Automated Somatic Variant Refinement by Deep Learning


Keywords
somatic, variant, refinement, manual, review, deep, learning, genomics, bioinformatics, sequencing
License
MIT
Install
pip install deepsvr==0.0.1.post1

Documentation

manual_review_classifier

A walk-through of the manual_review_classifier repo can be found on the Wiki page.

Table of Contents

  1. Chapter 1 - Background Information
    1. Authors
    2. Citation
    3. About
    4. Installation
  2. Chapter 2 - Identification of Somatic Variants in Sequencing Data
    1. Automated Somatic Variant Calling
    2. Somatic Variant Refinement (SVR)
  3. Chapter 3 - Methods and Analysis for Machine Learning Models
    1. Data Assembly
    2. Logistic Regression Model
    3. Random Forest Model
    4. Deep Learning Model/li>
    5. Model Evaluation
    6. Inter-reviewer Variability
    7. Orthogonal Validation
    8. Re-review Analysis
  4. Chapter 4 - Using DeepSVR (Deep Learning Model)
    1. Create the Classifier/li>
    2. Prepare Your Data
    3. Classify Your Data

Installation of manual_review_classifier repo

Install the package using the editable (-e option) mode for ease in development

git clone [manual_review_classifier_link]

cd manual_review_classifier

pip install -e .

Test instalation

prepare_manual_review_classifier_data -h

Test

To run tests Download GRCH37 fasta and fasta index file to home directory as '~/grch37.fa' and '~/grch37.fa.fai'