What's the Latest Development?

A study published in Nature Biotechnology describes a new DNA sequencing technique, "Haploseq," that uses both molecular biology and computational biology "to quickly determine which genetic variants occur together on the same stretch of chromosome and, therefore, came from the same parent." With this information, says lead researcher and University of California-San Diego scientist Bing Ren, "clinicians [can] better assess a person's individual risk for disease. It is potentially transformative for personalized medicine."

What's the Big Idea?

Excluding the sex chromosomes, humans get one copy of each chromosome from each parent. Until now, it was difficult to distinguish between the two copies, making it that much harder to identify where a particular genetic variant or mutation came from. For a disease such as cancer, which often involves more than one mutation, Haploseq can locate whether the mutations exist on the same chromosome or different chromosomes, which could affect whether a person will get the disease. In addition, and with further development, Ren says that Haploseq could help make organ matching much more accurate as well as assist researchers with human migration patterns and ancestry. 

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Read it at MedicalXpress