Category Archives: Clinical genetics

VarSeq helps fuel expansion at NorthShore University HealthSystem

Golden Helix and the NorthShore University HealthSystem recently announced our collaboration as the NorthShore puts the VarSeq software to work in it’s gene panel pipeline. VarSeq will be used in Northshore’s clinical lab to help them realize their aggressive expansion plan for 2015. The … Continue reading

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Andreas Scherer

Genetic Testing for Cancer

In 1914 the German cytologist Theodor Boveri coined the phrase “Cancer is a disease of the genome”. At this time his ideas were equally revolutionary as they were highly contested. Fast forward. More than hundred years later, Next-Generation Sequencing effectively … Continue reading

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Cheryl Rogers

Dr. Andreas Scherer to speak at ITI 2015

The Integrative Therapies Institute is soon hosting the annual, ITI 2015 conference January 23rd through the 25th in sunny San Diego and our own Dr. Andreas Scherer has been invited to speak. Some of the most prominent genomic and integrative … Continue reading

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Gabe Rudy

In Pursuit of Longevity: Analyzing the Supercentenarian Whole Genomes with VarSeq

If you haven’t been closely watching the twittersphere or other headline sources of the genetics community, you may have missed the recent chatter about the whole genome sequencing of 17 supercentenarians (people who live beyond 110 years). While genetics only … Continue reading

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Gabe Rudy

6 Population Catalogs Compared with the ExAC 61,486 Exomes

To say the announcement of Dan MacArthur’s group’s release of the Exome Aggregation Consortium (ExAC) data was highly anticipated at ASHG 2014 would be an understatement. Basically, there were two types of talks at ASHG. Those that proceeded the official … Continue reading

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Andreas Scherer

Leveraging SVS for NGS Workflows

Over the last decade, DNA sequencing has made vast technological improvements. With the cost of sequencing decreasing significantly, sequencing technology has become a product for the masses. The sequencing technology and programs that were once used exclusively by major research … Continue reading

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Gabe Rudy

The New Human Genome Reference and Clinical Grade Annotations: It’s All About the Coordinates

On my flight back from this year’s Molecular Tri-Conference in San Francisco, I couldn’t help but ruminate over the intriguing talks, engaging round table discussions, and fabulous dinners with fellow speakers. And I kept returning to the topic of how … Continue reading

Posted in Best practices in genetic analysis, Clinical genetics, Personal genomics | 1 Comment
Andreas Scherer

“Precision Medicine”: Moving Next-Generation Sequencing into the Clinic Today

Kellie Carey discussing her treatment with her doctor. Image by Jesse Neider for The Wall Street Journal Just a few weeks ago, the case of Kellie Carey made it to the front page of the Wall Street Journal. Initially, her … Continue reading

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Why You Should Go To TCGC

In a couple of short weeks, Gabe is headed off to TCGC in San Francisco where he will be giving part of a short course. He was super excited about it last year and is even more so this year. … Continue reading

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Josh Forsythe

Special Discount – TCGC: Clinical Genomics Conference (don’t miss @gabeinformatics’ next short course!)

During our last webcast, Gabe Rudy mentioned he would be giving a couple upcoming short courses: one on the analysis and interpretation of his personal genome, and one on alignment and variant calling of next-gen sequencing data. If you haven’t … Continue reading

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