Hereditary diseases are diseases that can be passed down to offspring. A common example of this is color blindness, which is an X-linked chromosomal disorder.
Over 40 tandem repeats undergo expansion events that lead to neurological disease. This number is likely an underestimate as many repeats are difficult to amplify using existing short read s...
Date: June 8, 2021 Time: 10:00am (PDT), 1:00pm (EDT) Most deaths from ovarian and endometrial cancer are due to high-grade subtypes that metastasize before they are detectable by available...
As NGS panels grow, test interpretation becomes more complex and time-consuming / With the explosion of NGS data, the need for consolidated databases with reliable and transparent curation a...
Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease affecting approximately 1 in 50,000 people worldwide. About 10% of these cases are found to have a hereditary component, bu...
What if your lab could perform exome sequencing with the same sensitivity and efficiency of targeted sequencing? The new integrated QIAseq Human Exome TR Insights solution from QIAGEN delive...
Learning Objectives: 1. To provide an overview of relevant hereditary cancer syndromes 2. To encourage providers to obtain a thorough family history 3. To educate providers about available r...
Theragen Bio. (TheragenEtex Subsidiary company) has been conducted the genome-wide research and the genome-based genetic testing services. From 2007, researchers of Theragen Bio. are collabo...
In this presentation Dr. Kevin Halling describes the use of RNA-seq testing for identifying clinically significant gene fusions in tumors that can be used to help establish diagnosis and gui...
The BRCA1 and BRCA2 genes represent the best examples of the modern understanding of cancer molecular genetics. Testing for germline and somatic mutations in BRCA 1/2 has gradually become com...
QIAGEN helps your team focus on the opportunities, not the obstacles, with an end-to-end clinical testing solution. During this talk, we will present a lung cancer case study to show how QIAG...
As the compendium of putatively disease causing variants expands, gathering the most current and accurate information is critical to computing variant classifications. The QIAGEN knowledgebas...
DATE: October 25, 2018TIME: 08:00am PDT, 11:00am EDT While the significance of the microbiome is unprecedented, a thorough study to dissect the role of individual popul...
In this presentation I will describe results from a family study designed to identify the genetic cause for familial clustering of several early onset cancers. Data from next generatio...
The arrangement of chromatin inside the nucleus has long been recognized as a key element in genomic stability and an active participant in transcriptional control. With the development and d...
Prostate cancer is one of the most common cancers in men and a major health issue in the US and Worldwide. Until recently, prostate cancer was not felt to be a hereditary disease. ...
The advent of next generation sequencing has transformed the way we identify mutations with clinical implications. As the compendium of variants expands, gathering the most current and accura...
More and more decisions will center on the ability to molecularly characterize a disease. So the molecular diagnostic laboratory will have a pivotal role. What does that look like? Will we be...
DATE: July 20, 2017TIME: 8:00am PT, 11:00am ET, 5:00pm CESTNeurodevelopmental disorders (NDDs) are clinically and etiologically highly heterogeneous and are characterized by a...
Nucleotide variation in gene regulatory elements is a major cause of human disease. Despite continual progress in the cataloging of these elements, little is known about the code and grammati...
DATE: May 9, 2017TIME: 8:00am PT, 11:00am ETHearing loss is the most common sensory defect in humans. It affects 360 million people worldwide and by 2020, that number is predi...
As next generation sequencing has lowered the price of DNA sequencing orders of magnitude below what it cost to create the first consensus human genome, the sheer diversity of human sequence...
Whole genome and exome sequencing is being widely used to identify disease-causing variants in patients with hereditary and rare diseases. Discovering the true disease-causing variants often...
Medical genetics is a specialty of medicine that encompasses patients at all ages (prenatal, pediatric, adult), as well as all organ systems. As the genetic causes of more diseases have been ...
Over 40 tandem repeats undergo expansion events that lead to neurological disease. This number is likely an underestimate as many repeats are difficult to amplify using existing short read s...
Date: June 8, 2021 Time: 10:00am (PDT), 1:00pm (EDT) Most deaths from ovarian and endometrial cancer are due to high-grade subtypes that metastasize before they are detectable by available...
As NGS panels grow, test interpretation becomes more complex and time-consuming / With the explosion of NGS data, the need for consolidated databases with reliable and transparent curation a...
Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease affecting approximately 1 in 50,000 people worldwide. About 10% of these cases are found to have a hereditary component, bu...
What if your lab could perform exome sequencing with the same sensitivity and efficiency of targeted sequencing? The new integrated QIAseq Human Exome TR Insights solution from QIAGEN delive...
Learning Objectives: 1. To provide an overview of relevant hereditary cancer syndromes 2. To encourage providers to obtain a thorough family history 3. To educate providers about available r...
Theragen Bio. (TheragenEtex Subsidiary company) has been conducted the genome-wide research and the genome-based genetic testing services. From 2007, researchers of Theragen Bio. are collabo...
In this presentation Dr. Kevin Halling describes the use of RNA-seq testing for identifying clinically significant gene fusions in tumors that can be used to help establish diagnosis and gui...
The BRCA1 and BRCA2 genes represent the best examples of the modern understanding of cancer molecular genetics. Testing for germline and somatic mutations in BRCA 1/2 has gradually become com...
QIAGEN helps your team focus on the opportunities, not the obstacles, with an end-to-end clinical testing solution. During this talk, we will present a lung cancer case study to show how QIAG...
As the compendium of putatively disease causing variants expands, gathering the most current and accurate information is critical to computing variant classifications. The QIAGEN knowledgebas...
DATE: October 25, 2018TIME: 08:00am PDT, 11:00am EDT While the significance of the microbiome is unprecedented, a thorough study to dissect the role of individual popul...
In this presentation I will describe results from a family study designed to identify the genetic cause for familial clustering of several early onset cancers. Data from next generatio...
The arrangement of chromatin inside the nucleus has long been recognized as a key element in genomic stability and an active participant in transcriptional control. With the development and d...
Prostate cancer is one of the most common cancers in men and a major health issue in the US and Worldwide. Until recently, prostate cancer was not felt to be a hereditary disease. ...
The advent of next generation sequencing has transformed the way we identify mutations with clinical implications. As the compendium of variants expands, gathering the most current and accura...
More and more decisions will center on the ability to molecularly characterize a disease. So the molecular diagnostic laboratory will have a pivotal role. What does that look like? Will we be...
DATE: July 20, 2017TIME: 8:00am PT, 11:00am ET, 5:00pm CESTNeurodevelopmental disorders (NDDs) are clinically and etiologically highly heterogeneous and are characterized by a...
Nucleotide variation in gene regulatory elements is a major cause of human disease. Despite continual progress in the cataloging of these elements, little is known about the code and grammati...
DATE: May 9, 2017TIME: 8:00am PT, 11:00am ETHearing loss is the most common sensory defect in humans. It affects 360 million people worldwide and by 2020, that number is predi...
As next generation sequencing has lowered the price of DNA sequencing orders of magnitude below what it cost to create the first consensus human genome, the sheer diversity of human sequence...
Whole genome and exome sequencing is being widely used to identify disease-causing variants in patients with hereditary and rare diseases. Discovering the true disease-causing variants often...
Medical genetics is a specialty of medicine that encompasses patients at all ages (prenatal, pediatric, adult), as well as all organ systems. As the genetic causes of more diseases have been ...
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