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

Making the case for genetic testing

These past 2 weeks yielded interesting research on – yield.

  • Researchers performed prenatal exome sequencing in fetuses with structural anomalies detected by ultrasonography and found it highly efficient. They also demonstrated varying variant detection rates for different structural anomalies.
    The Lancet
  • 17.2% of 3607 prostate cancer patients examined had a pathogenic germline variant. But 37% of those did not qualify for genetic testing per National Comprehensive Cancer Network recommendations.
    JAMA Oncology
  • WES shows a 45% diagnostic yield for unexplained epilepsy in a new metanalysis, proving to be a cost-effective diagnostic procedure.
  • In pharmacogenomics news, CYP2D6-guided opioid therapy improved pain control in certain subjects.
    Genetics in Medicine

Shining a light on unique inheritance patterns
  • Researchers estimate the prevalence of uniparental disomy in a cohort of over 4 million people, contributing to our understanding of the phenomenon along with the topic of imprinting.
    Preprint in bioRxiv
  • CNVs comprise a significant and somewhat unexplored portion of genetic variation. Using UK biobank data, researchers constructed a novel depiction of CNV burden in the population.
    Preprint in bioRxiv

Cool research
  • A novel approach of harnessing transcriptome and eQTL analyses along with previous GWAS results to detect novel genes of interest in inherited disease.
    Nature Genetics
  • Different approaches to treating Leber congenital amaurosis using an in-vitro “disease-in-a-dish” approach.

Quiz Break !

(answer at the end)

  1. Which researcher discovered the genetic basis for sex determination?
    a. Nettie Stevens b. Thomas Hunt Morgan
  2. Can you identify the women in this photo?

 Women seated at microscopes

How many clinical geneticists are there in the U.S.?

An estimated 2 clinical geneticists per 1 million people. Is this sufficient for the future of genetic health care? What can we do about it?
Genetics in Medicine

Who uses the ACMG guidelines?

Almost everyone, or 95% of participants in this survey, but many use modified or evolved criteria. A survey across 63 laboratories assessing the implementation of ACMG-AMP guidelines.
Genetics in Medicine

Significant Singles:
  • H2AFY promoter as a cause of Liebenberg Journal of Medical Genetics
  • Bi-allelic POLR3A & Wiedemann‐Rautenstrauch syndrome AJMG
  • De novo variants in MAPK8IP3 in intellectual disability with brain anomalies AJHG
  • PADI3 & Central Centrifugal Cicatricial Alopecia NEJM
  • Cardiomyopathy with lethal arrhythmias & KLHL24 Human Molecular Genetics

Ada Reports

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

De novo SOX4 heterozygous missense variants found in four children who share developmental delay, intellectual disability, and mild facial and digital morphological abnormalities. SOX4 variants cluster in the highly conserved, SOX family-specific HMG domain, but each alters a different residue. AJHG

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

Answer: Yes, this week’s quiz is in honor of Women in Science Day.
1. Nettie Stevens was able to deduce that the males produced sperm with X and Y chromosomes—the sex chromosomes—and that females produced reproductive cells with only X chromosomes while working at Bryn Mawr College. However, Thomas Hunt Morgan, a prominent geneticist at the time, is credit for the discovery.
2. The women in the photo are unidentified, and most likely were not credited for their work.

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The shortest bi-weekly genomics research report in the world

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