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Updated: Jun 23, 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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专业人士对提供个性化的新突变复发风险的看法:对遗传咨询的影响

Alison C Kay1,2,3, Jonathan Wells1,2,4, Anne Goriely1,2

  • 1MRC Weatherall Institute of Molecular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.

Journal of genetic counseling
|June 26, 2024
PubMed
概括

一项新的遗传咨询策略 (PREGCARE) 为患有孩子新生遗传病的夫妇提供个性化复发风险. 这种方法可以让许多夫妇放心,更好地支持那些风险较高的人,改善生殖决策.

关键词:
马赛克主义的马赛克主义.精准医学是一门精准医学.产前检测是产前检测.复发风险 复发风险 复发风险

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Implementation of In Vitro Drug Resistance Assays: Maximizing the Potential for Uncovering Clinically Relevant Resistance Mechanisms08:46

Implementation of In Vitro Drug Resistance Assays: Maximizing the Potential for Uncovering Clinically Relevant Resistance Mechanisms

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Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
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