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Updated: Sep 10, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

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遺伝子診断のためのゲノムシーケンシングとエクソームシーケンシングを比較するランダム化試験によるマイクロコストとコスト結果分析

Wendy J Ungar1, Vercancy Wu1, Christian R Marshall2

  • 1Program in Child Health Evaluative Sciences, Hospital for Sick Children Research Institute, Toronto, ON, Canada.

Genetics in medicine : official journal of the American College of Medical Genetics
|August 25, 2025
PubMed
まとめ

ゲノムシーケンシング (GS) は,珍しい疾患の診断にエクソームシーケンシング (ES) よりも高価で,同様の診断結果が得られます. GSによって唯一検出可能な変種を評価するには,さらなる研究が必要です.

キーワード:
RCT について診断用収量エクソームシーケンシングゲノムシーケンシングマイクロコスティング

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