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Updated: Feb 24, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Human genetics contributes to the understanding of disease pathophysiology and drug discovery
Saori Sakaue1, Yukinori Okada2
1Department of Statistical Genetics, Osaka University Graduate School of Medicine, Osaka 565-0871, Japan; Department of Allergy and Rheumatology, Graduate School of Medicine, The University of Tokyo, Tokyo 113-8655, Japan.
Background:
Today, sequencing technology has markedly reduced the cost and time needed to read the human genome than ever before. Genome-wide association studies have successfully identified a number of disease risk genes.
Contribution To Understanding Of Disease Pathophysiology:
Recent advancements in genomic technology have substantially furthered our understanding of the pathophysiology of many diseases, such as rheumatoid arthritis.
Toward Drug Discovery And Future Direction:
Accumulating genomic information is now expected to accelerate the discovery of novel drugs. Rapidly growing multi-dimensional information in life sciences would make human genetics significantly important in the near future.
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