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The Human Side of Chromosomal Mutations

Some genetic diseases are so rare that only a handful of children have been diagnosed, often through microarray analysis. The New York Times chronicles how a few families searched for other people dealing with diseases known only by what part of the chromosome is affected, such as 16p11.2, 7q11.23, 22q13, or as a microdeletion of 16p11.2 through p12.2. They then met up to share their experiences. One parent found that looking at the children together made him think about how such small DNA changes can impact people so heavily.

It's a nice human interest story with slight genomic touch.

 

The Scan

Alzheimer's Risk Gene Among Women

CNN reports that researchers have found that variants in MGMT contribute to Alzheimer's disease risk among women but not men.

Still Hanging Around

The Guardian writes that persistent pockets of SARS-CoV-2 in the body could contribute to long COVID.

Through a Little Spit

Enteric viruses like norovirus may also be transmitted through saliva, not just the fecal-oral route, according to New Scientist.

Nature Papers Present Method to Detect Full Transcriptome, Viruses Infecting Asgard Archaea, More

In Nature this week: VASA-seq approach to detect full transcriptome, analysis of viruses infecting Asgard archaea, and more.