MARCH 14TH, 2019

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

Happy Pi Day everyone!

Big, bigger, biggest

It’s here, UK biobank first batch. 49,960 exomes, 4 million coding variants of which ~98.4% have frequency < 1%. The study should offer new perspectives on loss of function and actionable variants on a population scale.
bioRxiv Preprint

We also have early insights from 53,831 diverse genomes from the NHLBI TOPMed Program, which aims to elucidate the genetic architecture and disease biology of heart, lung, blood, and sleep disorders.
bioRxiv Preprint


Do we need a more diverse reference genome? Researchers compared the reference genome vs genomes from 154 individuals of 26 different ethnic populations.
Nature Communications

We also had researchers assessing whether genetic variants associated with blood lipids, a major risk factor for CVD, are shared across different populations. They looked at African, Asian and European cohorts.
bioRxiv Preprint

More Parkinson and Alzheimer GWASes

With interesting findings.

Five new genome-wide loci identified and pathway analysis shows that genetic variants affecting APP and Aβ processing are also associated with late-onset Alzheimer Diseases in a large 95k GWAS.
Nature Genetics

Variants identified with GWAS, specifically, PARK16 may predict disease progression in Parkinson’s patients.
Journal of Medical Genetics

Cartoon Break !


Credit and more funny cartoons at Beatrice the Biologist

Now we have TWAS: Transcriptome Wide Association Study

Study of the human transcriptome reveals tissue-dependent associations between genes and complex traits.
bioRxiv Preprint

Moratorium on heritable genome editing

A practical and concrete initiative to stop gene editing until a robust international framework is in place, by some of the leading scientists in the field.

What do intronic and synonymous variants contribute?

Close to 5% of CACNA1F‐mediated inherited retinal disorders are explained by intronic and synonymous variants.
Human Mutation

Clinical utility pre/post conception

Preconception screening of consanguineous couples for recessive and X-linked disorders using genomic sequencing is practicable, and is likely to detect many more at-risk couples than any targeted panel could achieve.
Genetics in Medicine

High positive predictive value for DiGeorge syndrome microdeletion with novel NIPT test
Genetics in Medicine

Genetics and drug development

Genetics can shed a light on adverse effects that are target-mediated vs off-target.

In Brief:
  • Brugada Syndrome genes – only several with a conclusive pathogenic role Human Mutation
  • EHR-Biobank system associates GRIK5 with eye and vascular diseases AJHG

Ada Reports

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

A novel heterogeneous TNFAIP3 variant, with pathomechanism description in a patient with Behçet-Like Phenotype and Persistent EBV Viremia.
Journal of Clinical Immunology

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