Genetics

Mapping genes could improve cancer diagnosis

Large-scale changes to the structure of the genome are often seen in cancer cells. Scientists at the Babraham Institute in Cambridge, UK, have found a way to detect these changes, which could enhance cancer diagnosis and ...

Genetics

Researchers build SEQSpark to analyze massive genetic data sets

Uncovering rare susceptibility variants that contribute to the causes of complex diseases requires large sample sizes and massively parallel sequencing technologies. These sample sizes, often made up of exome and genome data ...

Diseases, Conditions, Syndromes

Doctors turn scope on rare diseases

Lynn Whittaker stood in the hallway of her home looking at the framed photos on the wall. In one, her son, Andrew, is playing high school water polo. In another, he's holding a trombone.

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