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New Gene Tests Can Predict if a Drug Will Work for a Patient

New Gene Tests Can Predict if a Drug Will Work for a Patient
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New Tool Improves Classification of Inherited Disease Genes

New Tool Improves Classification of Inherited Disease Genes
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University Of Pennsylvania , United States , Sharonj Diskin , Jung Kim , Pathogenicity Auto , Jo Lynne Rokita , Division Of Cancer Epidemiology , Health Informatics , National Institutes Of Health , Division Of Neurosurgery , American College Of Medical Genetics , Perelman School Of Medicine , National Cancer Institute , Intramural Research , Children Brain Tumor Network , Journal Of The National Cancer Institute , Association For Molecular Pathology , Department Of Biomedical , Perelman School , National Institutes , American College , Medical Genetics Association , Molecular Pathology , Associate Professor , Automated Germline Variant Pathogenicity , Brain Tumor Network ,

Researchers develop new tool for better classification of inherited disease-causing variants

Researchers from Children s Hospital of Philadelphia (CHOP), the Perelman School of Medicine at the University of Pennsylvania, and the National Cancer Institute (NCI) of the National Institutes of Health have developed a new tool that allows scientists to annotate variant data from large-scale studies with clinically-focused classifications for risk of childhood cancer and other diseases. This new tool brings older applications in line with current guidelines and is available for use—for free—in the research community. The tool was described in a paper recently published in the journal Bioinformatics. ....

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FDA Finally Moves to Scrutinize Specialized Health Screenings

The agency issued a rule that brings new scrutiny to a range of critical lab-developed tests, including certain cancer and prenatal screenings. ProPublica previously reported how lab-test accuracy and marketing had skirted federal oversight. ....

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AMP v. Myriad Genetics: Do intellectual property protections really stifle innovation?

As the Supreme Court debates the patentability of human genes, the media argues about whether patents help or hinder genetic research. The Genetic Literacy Project asserts that when public access and private interests are balanced, intellectual property protection can play an important role in spurring innovation. ....

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