Last Updated：2025/11/20
Sentence
シーケンシングにより、参照ゲノムに比べてコピー数が可変で長さが1000塩基以上のDNA配列である新規のコピー数多型が同定され、いくつかの遺伝子を含んで患者の発達遅滞に寄与している可能性が示唆されました。
Quizzes for review
Sequencing revealed a novel copy-number variant that encompassed several genes and likely contributed to the patient's developmental delay.
See correct answer
Sequencing revealed a novel copy-number variant that encompassed several genes and likely contributed to the patient's developmental delay.
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Related words
copy-number variant
Noun
Japanese Meaning
（遺伝学）参照ゲノムに対して、コピー数が変動するDNA配列を指す。通常、1000ヌクレオチド（または塩基対）以上の長さを持つこの配列は、個体間でその出現回数に差が見られる。
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