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NEW YORK (GenomeWeb) – Genomic sequencing performed as part of the BabySeq project recently revealed a puzzling variant in a newborn.

Researchers working on the project performed sequencing on the baby and identified an alteration in RYR1, a gene that codes for a protein present in skeletal muscle. Variants in this gene have been linked to congenital myopathy, a kind of muscle weakness present at birth, and RYR1 variants are also known to cause malignant hypothermia, a condition set off by anesthesia that can lead to heat stroke, infections, and even death.

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US Agricultural Research Service scientists have sequenced the genome of the Asian giant hornet.

A study of families explores how children transmit SARS-CoV-2, according to the Associated Press.

According to the Economist, pooled testing for COVID-19 could help alleviate strains on testing labs.

In Science this week: MIT researchers outline approach dubbed translatable components regression to predict treatment response among IBD patients.

Aug
19
Sponsored by
UgenTec

This webinar will present a case study from in vitro diagnostics developer SpeeDx on its experience building a complete sample-to-result workflow — encompassing instrumentation and data analysis software — for its qPCR-based ResistancePlus MG Mycoplasma genitalium assay.

Aug
24
Sponsored by
Genecentric

This webinar, Part 1 of the “Advances in RNA-based Biomarker Development for Precision Oncology” webinar series sponsored by GeneCentric Therapeutics, will discuss how gene expression signatures can accelerate (and rehabilitate) drug programs, define targeted patient populations, expand drug indications, and improve clinical success.

Sep
03
Sponsored by
Illumina

This webinar will provide an overview of how the Colorado Center for Personalized Medicine (CCPM) at the University of Colorado implemented a preemptive pharmacogenomic screening program via a large-scale research biobank and a robust biocomputing system.

Sep
10
Sponsored by
Genecentric

This webinar, Part 2 of the “Advances in RNA-based Biomarker Development for Precision Oncology” webinar series sponsored by GeneCentric Therapeutics, will focus on the development of RNA-based companion diagnostics for oncology.