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At the American College of Medical Genetics meeting, University of Washington researcher Jay Shendure outlined the progress that his team has made using exome sequencing to study both Mendelian and complex conditions.
The researchers from both studies said that their approaches will be useful for studying not only Mendelian diseases, but also more complex diseases.
Using Complete Genomics' human genome sequencing service, an American research team has identified mutations behind two inherited conditions within one family.
Researchers from the University of Washington and elsewhere have published their work on the use of exome sequencing to identify the gene affected in a rare Mendelian disease called Miller syndrome.
For Complete Genomics, which provided the sequencing data for ISB's study, the project provides the first independent validation of its sequencing service by an early-access customer.
Two COVID-19 vaccine developers have released their trial protocols to build public trust, the New York Times reports.
A new analysis finds the rapid COVID-19 test from DnaNudge to be highly accurate, Reuters reports.
In Science this week: global citizens' assembly on genome-editing technologies proposed, epigenetic markers predict metformin response, and more.
According to the Verge, many US states are not including positive results from rapid COVID-19 testing in their case numbers.