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Updated: Sep 13, 2025

Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors
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Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors

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使用深度突变扫描和基础编辑进行变异函数测量的并排比较

Ivan Sokirniy1, Haider Inam1,2, Marta Tomaszkiewicz1,2

  • 1Huck Institute for the Life Sciences, University Park, PA 16802, United States.

Nucleic acids research
|July 31, 2025
PubMed
概括

克里斯普尔基编辑 (BE) 有效地注释基因变异,与深度突变扫描 (DMS) 相相关. 基础编辑屏幕上的简单过器可以准确识别变体功能,减少对广泛验证的需求.

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Following the Dynamics of Structural Variants in Experimentally Evolved Populations

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Using Next Generation Sequencing to Identify Mutations Associated with Repair of a CAS9-induced Double Strand Break Near the CD4 Promoter

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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%...
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Point and Frameshift Mutations01:30

Point and Frameshift Mutations

Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...
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Spontaneous and Induced Mutations01:30

Spontaneous and Induced Mutations

Spontaneous mutations arise infrequently during DNA replication due to errors in the process. A key factor behind these errors is tautomeric shifts in nitrogenous bases, where bases transition from keto to enol forms or amino to imino forms. This shift can alter base-pairing rules, leading to mutations. Additionally, reactive oxygen species (ROS) arising from aerobic metabolism can damage DNA, resulting in depurination (loss of a purine base) or depyrimidination (loss of a pyrimidine base).
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