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Updated: Sep 13, 2025

gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair
08:15

gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair

Published on: October 6, 2014

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创始人BRCA1外基因复制涉及T2T参考基因组特定区域的断点,导致宪法融合转录

Mathias Schwartz1,2,3, Mathilde Filser4,5, Kevin Merchadou5,6

  • 1Department of Genetics, Institut Curie, Paris, France. mathias.schwartz@curie.fr.

NPJ genomic medicine
|July 31, 2025
PubMed
概括

准确的遗传咨询需要了解BRCA1外型的复制增长. 先进的测序和最新的基因组参考对于表征复杂的结构变异及其转录学效应至关重要.

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