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    • Scripts for routine analysis of clinical next generation sequencing (NGS) data at Synnovis Genetics
      Python
      Other
      21140Updated Dec 25, 2024Dec 25, 2024
    • mokabed

      Public
      Generates BED files
      Python
      00130Updated Dec 20, 2024Dec 20, 2024
    • Python
      0010Updated Dec 19, 2024Dec 19, 2024
    • 0010Updated Dec 16, 2024Dec 16, 2024
    • fhprs

      Public
      FH Polygenic risk score
      Python
      0010Updated Dec 9, 2024Dec 9, 2024
    • BASHer (BiAllellic SNP Haplotyper). This script filters and classifies SNPs for SNP Array data
      Python
      0013Updated Nov 28, 2024Nov 28, 2024
    • This app calculates the readcount for a batch of samples for CNV calling using ExomeDepth.
      Shell
      0020Updated Nov 20, 2024Nov 20, 2024
    • AOI script for automation of Sophia CLI requests
      Python
      0000Updated Nov 19, 2024Nov 19, 2024
    • Workflow description of DNANexus workflow GATK3.5
      0000Updated Nov 18, 2024Nov 18, 2024
    • DNAnexus app comparing a query VCF to a truth VCF to calculate performance metrics including sensitivity and precision using hap.py and vcfeval
      Shell
      0020Updated Nov 13, 2024Nov 13, 2024
    • Shell
      MIT License
      0000Updated Nov 7, 2024Nov 7, 2024
    • Modified version of dnanexus_mpileup to do some extra data manipulation on scip patient data
      Shell
      0000Updated Nov 7, 2024Nov 7, 2024
    • SCIP

      Public
      0000Updated Nov 7, 2024Nov 7, 2024
    • Performs CNV calling using ExomeDepth.
      Shell
      0141Updated Nov 1, 2024Nov 1, 2024
    • Scripts for adhoc changes. See readme for details of each script
      Python
      0030Updated Oct 31, 2024Oct 31, 2024
    • Generates a .json containing URLs for VCF, BAM and index files located on DNAnexus for use in the IGV browser
      Python
      0030Updated Oct 8, 2024Oct 8, 2024
    • MIT License
      0001Updated Oct 1, 2024Oct 1, 2024
    • igvwebapp

      Public
      Docker build for the IGV WebApp
      JavaScript
      0020Updated Sep 4, 2024Sep 4, 2024
    • Flask frontend to dMLPA dockerised R Scripts
      Python
      0001Updated Aug 19, 2024Aug 19, 2024
    • Script to display a message box on the sequencers, with the goal of ensuring data is not lost should the data integrity check fail
      Python
      0020Updated Aug 9, 2024Aug 9, 2024
    • DNAnexus implementation of duty_csv. To be used in conjunction with process_duty_csv
      Shell
      0000Updated Jul 10, 2024Jul 10, 2024
    • duty_csv

      Public
      Generates a CSV file containing DNAnexus download links for end of run processing. To be used in conjunction with process_duty_csv
      Python
      0030Updated Jul 10, 2024Jul 10, 2024
    • moka-fe

      Public
      This repo is incomplete and serves as a backup of some code from Moka. It includes some legac(hitt)y code.
      Python
      4000Updated Jul 9, 2024Jul 9, 2024
    • Scripts to manage data on the NGS workstation
      Python
      Other
      10101Updated Jul 5, 2024Jul 5, 2024
    • Upload files from the MicroArray scanner PC to DNANexus
      Python
      0010Updated Jul 5, 2024Jul 5, 2024
    • A package to validate the formatting of Illumina SampleSheets and which notifies the user of any issues
      Python
      Other
      0020Updated Jun 27, 2024Jun 27, 2024
    • App to upload multiqc files to genomics server
      Shell
      1031Updated Jun 25, 2024Jun 25, 2024
    • Shell
      0010Updated Jun 19, 2024Jun 19, 2024
    • Script for backing up data from the Archer analysis platform to DNAnexus for long term storage
      Python
      0010Updated Jun 13, 2024Jun 13, 2024
    • This repository contains the commands executed by the swiss army knife app (v3.0.0) to format a VCF according to GeL specifications for SNP ID checks
      Shell
      0110Updated Jun 10, 2024Jun 10, 2024