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Identifying the Effects of BRCA1 Mutations on Homologous Recombination using Cells that Express Endogenous Wild-type BRCA1
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Methods to classify BRCA1 variants of uncertain clinical significance: the more the merrier

Blase Billack1, Alvaro N A Monteiro

  • 1Department of Pharmaceutical Sciences, College of Pharmacy and Allied Health, St. John's University, Jamaica, New York, USA.

Cancer Biology & Therapy
|May 1, 2004
PubMed
Abstract

No abstract available in PubMed .

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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%...