i2b2 on Genomics Data
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Code Block
languagesql
themeEclipseRDark
titleExample rs identifier SQL query
select count(distinct patient_num)
  from observation_fact
  where contains(observation_blob, 'FAM148 AND (stop_loss OR missense)')

...

Code Block
languagesql
themeEclipseMidnight
titleExample gene name SQL query
select count(distinct patient_num)
  from observation_fact
  where contains(observation_blob, 'rs183605470 AND heterozygous')