By Julia Karow

Researchers at the University of Washington have demonstrated that they can pinpoint the gene responsible for a Mendelian disorder by sequencing the exomes of a small number of affected individuals.

One application of the approach is to study rare diseases where the underlying genetic cause is unknown. According to a study describing the method, published online two weeks ago in Nature, the strategy could also be used to uncover genes involved in diseases with more complex genetics that will require larger sample sizes.

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In this webinar, the first in the “New Frontiers in Liquid Biopsy Research” series, Bea Bellosillo, head of pathology at the Hospital del Mar, will discuss her experience evaluating an early-access lung cancer panel that detects copy number variants and fusions.