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Johns Hopkins

Go Small or Go Big?

The Wall Street Journal reports that some researchers are pinning their hopes to small, targeted clinical trials, while others argue large trials are still needed.

Researchers found that functional assays could improve the classification of cystic fibrosis-related missense variants with variable disease expressivity.

A panel at the Biology of Genomes meeting discussed the ethical, legal, and social ramifications of germline gene editing.

BGI will study pancreatic cancer with a group at Johns Hopkins and develop a diagnostic test for preterm birth detection with Mount Sinai Hospital researchers.  

Data from almost 19,500 individuals did not show clear ties between a heterozygous mutation in the HBB hemoglobin beta gene and ischemic stroke risk.

At the ACMG meeting, a Johns Hopkins researcher described how she used the social media platform to contact and survey more than 150 patients with two rare diseases.

In PNAS this week: population structure in Helicoverpa, AMP-activated protein kinase levels in nicotine-exposed mice, and more.

The DocUBuild tool grew out of the eMERGE network and helps institutions curate and manage genomic educational material for clinicians and patients alike.

Partnering with researchers at McGill University, the Johns Hopkins team that developed the method has now demonstrated its power in a much larger group of patients.

The assay correlates shortened telomere lengths in patients of different ages to potential risks for inherited diseases, such as bone marrow failure syndrome and liver cancer.

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The Guardian reports that some UK physicians are calling for increased regulation of direct-to-consumer genetic tests.

US tax agency says 23andMe's genetic health test can be claimed as a medical expense for tax purposes, the Wall Street Journal reports.

Two Democratic lawmakers argue at USA Today that independent science is under attack by the Trump Administration.

In PLOS this week: networks of genes co-expressed in depression, role of minichromosome maintenance genes in lung adenocarcinoma, and more.