Genome sequencing revealed

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The entire string of genomes of 91 human sperm from one man have been sequenced by researchers at Stanford University. We now have a fascinating look into naturally occurring genetic variation in just one person. This report also shows a whole genome sequence of a human gamete which are the cells that become the child and pass on inherited physical traits.

Implications for genetic diseases

“This represents the culmination of nearly a decade of work in my lab,” said Stephen Quake, PhD, the Lee Otterson Professor in the School of engineering and professor of bioengineering and of applied physics. “We now have devices that will allow us to routinely amplify and sequence to a high degree of accuracy the entire genomes of single cells, which has far-ranging implications for the study of cancer, infertility and many other disorders.”

Recombination revealed

Sequencing sperm cells reveals a natural process called recombination that ensures that a baby is a blend of DNA from all four of the grandparents. With this new data, scientists will no longer need to look at entire genetic studies of populations to estimate how frequently recombination had occurred in individual sperm and egg cells.

Fundamental dynamics

Single-sperm sequencing will allow us to chart and understand how recombination differs between individuals at the finest scales. This is an important proof of principle that will allow us to study both fundamental dynamics of recombination in humans and whether it is involved in issues relating to male infertility,” explained Gilean McVean, PhD, professor of statistical genetics at the Wellcome Trust Centre for Human Genetics.

Source: MedicalNewsToday, Cell


 
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