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Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action.

Vaidehi JobanputraBrock E SchroederMichael J BamshadWei ShenElizabeth SpiteriGhunwa NakouziStacie L TaylorChristian R MarshallLinyan MengStephen F KingsmoreKatarzyna A EllsworthEuan AshleyRyan J Taftnull null
Published in: NPJ genomic medicine (2024)
Keyphrases
  • genome wide
  • single cell
  • dna methylation
  • copy number
  • gene expression