Miller Syndrome News and Research

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From Sanger Sequencing to the Human Genome Project: The Evolution of DNA Sequencing Technology

In this inspiring interview, we speak to Dr. Radoje Drmanac, co-founder of Complete Genomics, about the past, present, and future of genomics research.

From MGI 13 Apr 2023

DHODH inhibitor PTC299 shows potential as a COVID-19 therapeutic

As COVID-19 continues to take a heavy toll on human health and life in many parts of the world, there is still no effective antiviral drug or vaccine. This has fueled an intensive search for small molecules and proteins that can inhibit viral entry and replication.

10 Aug 2020

New software tool helps identify genetic mutations linked to increased risk for cancer

Researchers at The University of Texas MD Anderson Cancer Center and other institutions have applied a newly developed software tool to identify genetic mutations that contribute to a person's increased risk for developing common, complex diseases, such as cancer.

31 May 2014

Whole genome sequencing of entire family beneficial

The Institute for Systems Biology (ISB) has analyzed the first whole genome sequences of a human family of four. The findings of a project funded through a partnership between ISB and the University of Luxembourg was published online today by Science on its Science Express website. It demonstrates the benefit of sequencing entire families, including lowering error rates, identifying rare genetic variants and identifying disease-linked genes.

11 Mar 2010

ISB uses Complete Genomics’ service to sequence genomes of four family members suffer from Miller syndrome

Complete Genomics Inc., a third-generation human genome sequencing company, today announced that the Institute for Systems Biology employed Complete Genomics’ human genome sequencing service to sequence a family quartet to determine the depth of genetic information possible in analyzing a full family’s sequence, and to verify the gene responsible for Miller syndrome, a rare craniofacial disorder.

11 Mar 2010

Scientists use exome sequencing method to discover the cause of mendelian disorder

For the first time, scientists have successfully used a method called exome sequencing to quickly discover a previously unknown gene responsible for a mendelian disorder.

20 Nov 2009