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Article

Clinical genomics and contextualizing genome variation in the diagnostic laboratory.

Expert review of molecular diagnostics - 1 Oct 2020

Lupski James R, Liu Pengfei, Stankiewicz Pawel, Carvalho Claudia M B, Posey Jennifer E

Abstract excerpt

INTRODUCTION: The human genome contains the instructions for the development and biological homeostasis of the human organism and the genetic transmission of traits. Genome variation in human populations is the basis of evolution; individual or personal genomes vary tremendously, making each of us truly unique. AREAS COVERED: Assaying this individual variation using genomic technologies has many applications in...

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PMID: 32954863
DOI: 10.1080/14737159.2020.1826312
PMCID: PMC8208305

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