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@108krohan
108krohan / GA4GH_EVA_DBSNP2_IMPORT_PIPELINE.md
Last active December 5, 2019 10:51
2019 Google Summer of Code project report

Data pipeline for exchange of human genomic variation between public repositories

as part of 2019 Google Summer of Code

About the organisation

The Global Alliance for Genomics and Health (GA4GH)

The Global Alliance for Genomics and Health (GA4GH) helps accelerate the potential of genomic medicine to advance human health. It brings together over 400 leading Genome Institutes and Centers with IT industry leaders to create global standards and tools for the secure, privacy respecting and interoperable sharing of Genomic data.

European Variation Archive (EVA)

@108krohan
108krohan / check_assumptions.py
Created July 18, 2019 15:02
Execution format: `python check_assumptions.py -i refsnp-chr-XYZ.json.bz2`
import argparse
import json
import bz2
import time
def is_pltp_uniq(info):
'''
checks if PLTP is true at only 1 place, i.e. primary in any JSON
'''
pltp_count = 0
export PATH=$HOME/bin:$HOME/.toolbox/bin:$PATH
export ZSH="$HOME/.oh-my-zsh"
ZSH_THEME="powerlevel9k/powerlevel9k"
POWERLEVEL9K_MODE="nerdfont-complete"
POWERLEVEL9K_DISABLE_RPROMPT=false
POWERLEVEL9K_PROMPT_ON_NEWLINE=true
POWERLEVEL9K_LEFT_PROMPT_ELEMENTS=(os_icon user dir_writable dir vcs)
POWERLEVEL9K_RIGHT_PROMPT_ELEMENTS=(status root_indicator background_jobs time)
#POWERLEVEL9K_MULTILINE_LAST_PROMPT_PREFIX="%(?:%{$fg_bold[green]%}➜ :%{$fg_bold[red]%}➜ )"