Release date: 2017-03-27
Einstein researchers have developed and validated a method for accurately identifying mutations in a single-cell genome. This new approach can help predict whether cancer will develop in seemingly healthy tissues and is described in papers published in the online edition of today's natural methods. The corresponding authors are Dr. Jan Vijg, President of Molecular Genetics at Lola and Saul Kramer.
Before scientists can analyze the genome of a single cell, they must first obtain a sufficient amount of DNA, a process called Whole Genome Amplification (WGA). However, WGA usually produces errors in the nucleotide sequence, which may erroneously indicate the presence of a mutation. In their paper on natural methods, Dr. Vijg and colleagues describe a new method for accurately identifying the presence of mutations (technically referred to as single nucleotide variants) in the genome of a single cell.
Einstein researchers' new approach combines two techniques they developed: an improved WGA approach called single-cell multi-displacement amplification (SCMDA) and a single-cell variant "caller" whose correction may be amplified by genes The resulting nucleotide sequence is incorrect. A head-to-head comparison shows that the Einstein method is superior to several methods of genomic analysis that are currently sold.
Dr. Vijg said: "It is important to be able to recognize DNA mutations in individual cells in the human body because it can tell us who may have the risk of developing early-stage cancer." For example, he cited women who developed breast cancer at a young age. For some of these women, breast cancer is caused by heritable mutations in the DNA repair gene BRCA1 or BRCA2. These defects in DNA repair allow the number of mutations to increase in breast cells, leading to cancer.
Dr. Vijg said: "But many women develop early cancer, even without BRCA1 or BRCA2 mutations." These women may also have DNA repair defects, but we don't know, because DNA repair is so complex, our genomic analysis method allows us to directly assess their breast cancer winds for the first time.
Dr. Vijg said: "In addition to assessing the cancer risk of the population, new methods for identifying mutations in individual cells should help reveal the role of mutations in human aging."
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Source: Noble
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