DECEMBER 5TH, 2019
The shortest bi-weekly genomics research report in the world. Curated by the Emedgene Research Division.
Newborn Genetic Testing
Phenotype-based selection of critically ill neonates increases the likelihood of receiving a molecular diagnosis via rapid-turnaround exome sequencing, resulting in faster and more accurate diagnosis while reducing unnecessary testing and procedures. In a cohort of 50 neonates, yield was 58%, including 2 novel gene discoveries.
Genetics in Medicine
Newborn sequencing can identify thousands of genetic disorders in babies but will it always be the healthy thing to do? Tanya Lewis reviews studies performed to date, brings in the patient perspective, and asks us to factor in the costs as well.
Nature Supported Content
The AI Corner
Some of the most interesting research of the past couple of weeks was in AI.
Researchers tested the diagnostic capabilities of a swarm of radiologists, in combination with AI, in identifying pneumonia in chest radiographs. The swarm with AI outperformed individual radiologists and also the AI alone.
It will be interesting to see what are the practical applications of the swarm approach, particularly on future AI innovation.
npj Digital Medicine
Ensembles of models, developed by combining less-correlated, high-performing ML models, can outperform single-model prediction for bone age assessment.
What can AI do for medical practice in low- and middle-income countries, where workforce shortages and limited resources constrain the access to and quality of care?
How likely is likely pathogenic?
Is ‘likely pathogenic’ really 90% likely? Harrison & Rehm analyzed all reclassifications submitted to ClinVar after Jan 2016 & found that LP variants had highest reclassification rate (2.2%). 99.7% of LP reclassifications that reached a definitive state moved to P, suggesting that the LP category is being applied consistently.
Webinar Break !
If you missed our webinar on breaking the interpretation bottleneck with AI, the recording is now available for viewing:
SCT for non-invasive prenatal testing
Validation studies for single circulating trophoblast genetic testing as a form of non-invasive prenatal diagnosis: SCT can effectively detect fetal aneuploidies and CNVs and has the potential to become a diagnostic test instead of being merely a screening test.
- Accurate detection of UPD from exome data Genetics in Medicine
- SV calling, long and short Genome Biology
- A mitochondrial pipeline bioRxiv
Genetic Counselors & Interpretation
A survey study to explore clinical GCs’ variant interpretation practice across specialties. Out of 239 respondents, 97% indicated that this practice had an important impact on patient care, however, 72% found time to be a barrier to performing variant interpretation.
Genetics in Medicine
- TBX4 and posterior amelia with pelvis and pulmonary hypoplasia (PAPPA) AJHG
- OXR1 and neurological disease with cerebellar atrophy & lysosomal dysfunction AJHG
- POLR3GL and neonatal progeroid syndrome or Wiedemann–Rautenstrauch syndrome EJHG
- MAP1A and ASD & ADHD Nature Neuroscience
- ADAR and calcific cardiac valve disease BMJ Journals
(Ada is our AI engine, she likes to add an interesting new factoid she discovered in every issue)
Pathogenic homozygous truncating variants in ATP1A2 can lead to a novel lethal Polymicrogyria. BRAIN
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