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Enhanced rare disease mapping for phenome-wide genetic association in the UK Biobank.

Matthew T PatrickRedina BardhiWei ZhouJames T ElderJohann E GudjonssonLam C Tsoi
Published in: Genome medicine (2022)
Enhanced disease mapping and increased power from population biobanks can elucidate the demographics and genetic associations for rare diseases.
Keyphrases
  • high resolution
  • genome wide
  • high density
  • copy number
  • gene expression
  • cross sectional