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Inherited Disease

News on Mendelian diseases, hereditary cancer, variant classification, cystic fibrosis testing and more.

The firm's CLIA lab presented data at the virtual ASHG meeting showing how it validated WGS-based STR expansion analysis to diagnose rare disease.

PerkinElmer will provide biochemical and genetic testing to support BioMarin's testing program aimed at Batten disease and mucopolysaccharidosis disorders.

The effort, which will be the flagship project of the Children's Mercy Research Institute, aims to collect genomic data from 30,000 children and their families.

Revenues have begun to recover in Q3, driven by a ramp in SARS-CoV-2 testing, and the firm now expects full-year 2020 revenues to exceed its prior guidance.

The University of Michigan spinout will use the funds to develop its InheRET platform, increase integration with EHRs, as well as increase its workforce and userbase. 

According to CNBC, Pfizer has announced that its SARS-CoV-2 vaccine data won't be ready this week.

A number of United Nations agencies push for scientific findings to be made accessible through open science.

Paris-Saclay University garners international regard following a decade-long effort to establish the new research university, Nature News reports.

In Nucleic Acids Research this week: database to house IndiGen sequencing data, database of SARS-CoV-2 docking scores, and more.

Nov
03
Sponsored by
Agilent

Molecular tumor profiling has provided extensive value, both in tumor biology and oncology, with the development of new technologies to identify biomarkers.

Nov
17
Sponsored by
ACD

Circular RNAs (circRNAs) have recently gained substantial attention in the cancer research field where most, including the putative oncogene ciRS-7 (CDR1as), have been proposed to function as competitive endogenous RNAs (ceRNAs) by “sponging” specific microRNAs.