APRIL 11TH, 2019

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

Deep Learning in Genomics

AI anyone? This article exploded in the Twittersphere, with almost 700 tweets at the time of publication. All jokes aside, genomics is a data-driven science and we think it makes sense to “extract new insights from the exponentially increasing volume of genomics data” with machine learning. That’s why we built a whole company around this idea.

Another idea we agree with wholeheartedly (and implement in our platform) is that these models should generate novel insights and connections.
Nature Reviews Genetics

What happens when we reclassify variants?

Researchers looked at 1209 BRCA1 and BRCA2 variants identified between 2012-2017. 33% were reassessed during the period, and 12% were reclassified. As the researchers correctly pointed out, recontacting patients is an ethical and practical challenge.
Genetics in Medicine

A genetic paradox

Gene mutations that truncate the encoded protein can trigger the expression of related genes. 2 groups identify a molecular mechanism that activates the transcription of genes related to an inactivated gene, compensating for the knockout, both published in Nature.

Quiz Break !

(answer at the end)

Which one of these 2 lovely ladies appeared in a genomics journal in the past 2 weeks?

Helen of Troy and Pandora

Left: Helen of Troy, Right: Pandora

A network view of type 2 diabetes

Do the several hundred susceptibility loci for type 2 diabetes converge on a limited set of biological processes? Researchers build an analytical pipeline and integrate multiple sources of genetic, genomic and biological data to find out.
Genome Medicine

Improving utility of hearing loss gene panels

Curation of 142 genes and 164 gene-disease pairs by the ClinGen Hearing Loss Gene Curation Expert Panel resulted in 82 Definitive, 3 Refuted, and numerous Strong, Moderate, Limited and Disputed classifications.
Genetics in Medicine

An X chromosome CNV map

Structural differences between X chromosomes of fertile and primary ovarian insufficiency females + novel CNVs associated with ovarian dysfunction.
Genetics in Medicine

EM + neurological dysfunction

Systematic analysis of human genes encoding for epigenetic regulators identifies 295 genes as writers/erasers/readers of DNAm, histone meth/ac, and chromatin remodelers.
Genome Research

A reference map of the human protein interactome

Welcome “HuRI” which holds ~53,000 high-quality protein-protein interactions, 4 times larger than previously available resources.

Significant singles:
  • New Emedgene contributed publication: Novel ADCK3 variants & primary coenzyme Q deficiency Neurochemical Research
  • De novo missense substitutions in CDK8 & Syndromic Developmental Disorder AJHG
  • ALPK1 missense pathogenic variant and ROSAH syndrome Genetics in Medicine

Ada Reports

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

Researchers identify novel EYS mutations in a family with autosomal recessive retinitis pigmentosa.
Molecular Vision

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

Helen of Troy appeared in PLOS: Genes influence facial attractiveness through intricate biological relationships.

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The shortest bi-weekly genomics research report in the world

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