JANUARY 31ST, 2019

The shortest bi-weekly genomics research report in the world. Curated by the Emedgene Research Division.

The Rise of the Single Cell

What happens when we can look at genetic, epigenetic, spatial, proteomic and lineage information in individual cells? Single-cell RNA sequencing (scRNA-seq) will amplify our understanding of countless molecular and biological processes.
Nature Genetics Reviews

What’s the opposite of diversity?

Sequencing of 910 people of African descent demonstrates that these sequences contain a significant amount of DNA not found in the widely used reference genome (GRCh38). Diversity of population databases in genomics is crucial to advancing care worldwide and making informed clinical decisions among patients of different ethnicities.
Nature Genetics

NIPTing Ahead

Researchers used cell-free DNA (cfDNA) to screen for 30 spontaneously arising single-gene disorders. They followed up on 233 pregnancies and found zero false positives or false negatives. Exciting to see the advances in cfDNA. This has the potential to become a widely used tool to screen fetuses for both chromosomal and base-level alterations.
Nature Medicine

Quiz Break !

Which one of these characters is not genetically modified? (answer at the end)

breaking genes quiz images

32% WES

WES helps identify the cause of kidney failure in around 32% of pediatric kidney transplant recipients. If used in the early stage of kidney disease, such diagnosis could change management and also help manage potentially affected relatives.
Journal of the American Society of Nephrology

GUIDED Results In

GUIDED (Genomics Used to Improve DEpression Decisions) is a rater- and patient-blind randomized controlled trial in 1167 patients with major depressive disorder. Pharmacogenomic testing did not significantly improve mean symptoms, but did significantly improve response and remission rates for difficult-to-treat depression patients over the standard of care.
Journal of Psychiatric Research

Deeper into the Gene

Assessing the intolerance of gene sub-regions can help establish better improve diagnostic interpretation of sequence variants and contribute to the understanding of gene-disease mechanisms.

Live Long and Prosper

Who cares about lifespan? It’s healthspan that matters. That’s why we were excited to read that researchers identified 12 genetic loci associated with human healthspan. Now that’s promising for longevity research.
Communications Biology

Significant Singles:
  • Homozygous deleterious mutations in ARMC2 found to cause multiple morphological abnormalities of the flagella (MMAF), also supported by a CRISPR-Cas9 mouse model. AJHG
  • Human semaphorin 3 variants link melanocortin circuit development and energy balance Cell

Can you spot the obese zebrafish?

obese zebrafish

Ada Reports

(Ada is our AI engine, she likes to add an interesting new factoid she discovered in every issue)

Here’s a new variant you probably haven’t encountered yet, and it changes inheritance mode from autosomal dominant to autosomal recessive.
PLN has been associated with dilated cardiomyopathy in an autosomal dominant inheritance mode. But this study found a novel homozygous variant that complies with autosomal recessive inheritance for the disease.

Questions? Comments? Corrections? Please email us at hello@emedgene.com

Answer: Tris Prior (Shailene Woodley) in the Divergent trilogy is a ‘whole and restored human’ in the aftermath of a failed genetic experiment. Max Guevara (Jessica Alba) in Dark Angel is a genetically enhanced super-soldier.

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The shortest bi-weekly genomics research report in the world

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