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NEW YORK (GenomeWeb) – Analyzing the genomes of consanguineous families with apparently novel dysmorphology syndromes, researchers from Saudi Arabia have found a plausible molecular diagnosis for 90 percent, mostly in novel candidate genes.

Reporting detailed clinical and genomic analyses likes these through exchange databases, they said, will likely help researchers and doctors discover and confirm novel disease syndromes more quickly.    

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A genetic genealogy analysis helped secure the release of a California man from prison after getting his murder conviction overturned, the Guardian reports.

Technology Review discusses the concerns that come along with the ability to quickly synthesize viruses like SARS-CoV-2.

Researchers have uncovered large bacteriophages whose genomes include translational machinery, Live Science reports.

In PNAS this week: role for Myc in alternative splicing regulation in prostate cancer, variation in methylation in Arabidopsis, and more.

Feb
20
Sponsored by
Thermo Fisher Scientific

This webinar will discuss the use of 3’ mRNA sequencing to reduce the cost of gene expression studies on Illumina NGS systems.

Feb
25
Sponsored by
Loop Genomics

This webinar will discuss a study that used long-read transcriptome sequencing to explore the distribution of isoforms in colon cancer samples and their metastasis counterparts. 

Feb
26
Sponsored by
Autogen

This webinar will explain how the Clinic for Special Children in Strasburg, Pennsylvania, has transformed its DNA workflows to improve the diagnosis and treatment of genetic illnesses that are prevalent in the pediatric population of its community.

Feb
27
Sponsored by
Stilla

Since the publication of the “The Digital MIQE Guidelines: Minimum Information for Publication of Quantitative Digital PCR Experiments” (dMIQE) in 2013, there has been a large expansion of the applications of dPCR such as single nucleotide variations (SNVs) and copy number variations (CNVs) measurements associated with disease diagnostics.