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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.
At Nature, Johns Hopkins' Gundula Bosch describes her graduate program that aims to get doctoral students thinking about the big picture.
The proposed diagnostic platform will be able to identify and determine resistance of bloodstream infections within three hours.
Two bacterial species together help feed the development of colon cancer, according to the New York Times.
A study led by Johns Hopkins describes a method for automating slow, inaccurate manual chart review when searching for signs of misdiagnosis.
Public health experts call for a transparent COVID-19 vaccine approval process in a letter; the Food and Drug Administration commissioner assures science-based approval.
The Verge reports that new gene-naming guidelines aim in part to avoid Excel-related name change confusion.
In Nature this week: tuatara genome sequence aids in understanding amniote evolution, and more.
According to the Guardian, UK virologists say in a letter to officials that their expertise has been pushed aside in COVID-19 response plans.