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A New Update

A new assembly of the human genome is out. The NCBI Insights blog notes that this iteration, GRCh38, is the first major release in four years.

Methagora, Nature Methods' blog, adds that this build contains fewer gaps — the previous build, GRCh37, had 357 gaps. While GRCh38 still has gaps, Methagora notes it has spanned a couple of notable ones, such as ones associated with the MRC1 locus and with the CCL3L1/CCL4L1 genes.

This new version is also the first to include sequence information about centromeres, which are notoriously tricky spots to sequence as they are highly repetitive. The centromere sequence information included is a model of an average centromere.

"This will be a major boon to evolutionary studies of human populations and to the many groups doing mechanistic work on human centromeres and kinetochores," says Stanford University's Aaron Straight tells Methagora. "Finally, now we can stop saying 'mind the gap'."

The Scan

Positive Framing of Genetic Studies Can Spark Mistrust Among Underrepresented Groups

Researchers in Human Genetics and Genomics Advances report that how researchers describe genomic studies may alienate potential participants.

Small Study of Gene Editing to Treat Sickle Cell Disease

In a Novartis-sponsored study in the New England Journal of Medicine, researchers found that a CRISPR-Cas9-based treatment targeting promoters of genes encoding fetal hemoglobin could reduce disease symptoms.

Gut Microbiome Changes Appear in Infants Before They Develop Eczema, Study Finds

Researchers report in mSystems that infants experienced an enrichment in Clostridium sensu stricto 1 and Finegoldia and a depletion of Bacteroides before developing eczema.

Acute Myeloid Leukemia Treatment Specificity Enhanced With Stem Cell Editing

A study in Nature suggests epitope editing in donor stem cells prior to bone marrow transplants can stave off toxicity when targeting acute myeloid leukemia with immunotherapy.