相关实验视频

Updated: Jul 6, 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

12.3K

在单个中心系列中重新分类VUS的临床含义来自对BRCA1/2指定的ACMG/AMP分类规则的应用

Giovanni Innella1,2, Simona Ferrari2, Sara Miccoli2

  • 1Dipartimento di Scienze Mediche e Chirurgiche, Università di Bologna, Bologna, Italy giovanni.innella2@unibo.it.

Journal of medical genetics
|December 30, 2023
PubMed
概括

新的BRCA1/2变体分类准则有效地重新分类了临床队列中大多数意义不明的变体 (VUS). 建议定期对VUS进行审查,以改善遗传性乳腺和卵巢癌风险的管理.

关键词:
基因咨询 基因咨询

更多相关视频

Identifying the Effects of BRCA1 Mutations on Homologous Recombination using Cells that Express Endogenous Wild-type BRCA108:53

Identifying the Effects of BRCA1 Mutations on Homologous Recombination using Cells that Express Endogenous Wild-type BRCA1

Published on: February 17, 2011

14.7K
Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors09:22

Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors

Published on: February 28, 2021

5.5K

相关概念视频

Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
17.7K