JUNE 20th, 2019
The shortest bi-weekly genomics research report in the world. Curated by the Emedgene Research Division.
Reanalysis doubles yield
Researchers from Baylor reanalyzed a cohort of 250 exomes 6 years later, doubling yield. However manual interpretation isn’t feasible with large amounts of past open cases. They then developed a highly sensitive semi-automated pipeline that increased yield on a 2000 case cohort from 25.2% to 36.7%. New gene discoveries, clinical updates, and variant reclassifications contributed to increased yield.
We’ve written about automated reanalysis on our platform before here, as this research concludes, this is a highly effective method of closing the gap on past open cases.
The Population Architecture using Genomics and Epidemiology (PAGE) study is a GWAS of 26 phenotypes in 49,839 non-Europeans. In addition to describing a framework for analyzing diverse populations, they identified 27 novel loci and 38 secondary signals at known loci.
PGX study measured rapid response to phenylephrine in the post-operative period. Found results differ by genomics and ancestry.
The AI Corner
Will AI value match the hype? An opinion. We have the data, venture capital has poured in money, but it can take years between the emergence of evidence and practical implementation.
We agree, that’s why we use NLP to crawl the literature and make what’s known in science available in clinical settings.
Better together. Deep learning augments clinician performance in medical image interpretation.
Google AI develops a deep learning system that can improve Gleason scoring of prostate cancer.
NPJ Digital Medicine
Quiz Break !
What is the name of the genetic condition that causes you to sneeze in the sun?
Is Alzheimer genetics different between APOE4 bearers and non-bearers? WES on 3145 patients with AD and 4213 controls lacking ε4. The study identified multiple possible novel associations for AD in both groups.
Beneficial somatic variants
Somatic genetic events can offset the pathogenic effect of germline mutations leading to genetic mosaicism, sometimes causing milder phenotypes in Mendelian haematopoietic diseases.
Nature Reviews Genetics
Genetic basis for immunity persistence?
With the significant variability in the magnitude of vaccine-induced immunity, researchers conducted a GWAS and found genetic variations that can be connected persistent immunity for three childhood vaccines: capsular group C meningococcal (MenC), Haemophilus influenzaetype b, and tetanus toxoid (TT).
- RINT1 bi-allelic variations and infantile-onset recurrent acute liver failure and skeletal abnormalities AJHG
- SLIT2 and a risk of spontaneous preterm birth and fetal growth PLOS Genetics
- KM2TE and a spectrum of neurodevelopmental disorders and epilepsy AJHG
(Ada is our AI engine, she likes to add an interesting new factoid she discovered in every issue)
This study presents a unique case in a three-year-old female as she is the first report of bi-allelic mosaic presentation of an autosomal recessive genodermatosis, elucidated by the combination of a germline mutation and an acquired postzygotic mutation in ABCA12.
British Journal of Dermatology
Answer: The condition is referred to as ACHOO (Autosomal Dominant Compelling Helio-Ophthalmic Outburst). Science Alert
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