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Exome Sequencing
Exome Sequencing: is also known as whole exome sequencing (WES). It is a genomic technique for sequencing all of the protein-coding region of genes in a genome. It consists of two steps: the first step is to select only the subset of DNA that encodes proteins.
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NOV 11, 2015 | 12:00 PM
DNASTAR offers an integrated suite of software for accurate assembly, alignment, and analysis of sequence data from all major next-generation sequencing platforms, supporting key workflows in...Speaker: Matthew Keyser, MSSEP 15, 2015 | 8:00 AM
Chromosomal microarray analysis (CMA) is an established technology, which has demonstrated great sensitivity and specificity for detecting genome-wide copy number variants (CNVs). CMA represe...SEP 02, 2015 | 12:00 PM
DNASTAR offers an integrated suite of software for accurate assembly and analysis of sequence data for key NGS workflows, including microbial genome assembly. The DNASTAR assembly software is...MAY 14, 2015 | 7:30 AM
I will discuss the use of genomic technologies - mostly ultrahigh-throughput DNA sequencing - to study normal human biology and to determine what goes wrong when we have disease. First I wil...MAY 13, 2015 | 12:00 PM
Technological advances in high throughput, low cost DNA sequencing coupled with the availability of a high quality reference assembly allow us to interrogate the genome with greater precision...MAY 13, 2015 | 12:00 PM
DNASTAR offers an integrated suite of software for accurate assembly and analysis of sequence data from all major next-generation sequencing platforms supporting key workflows including targe...MAY 13, 2015 | 10:30 AM
Advanced sequencing technologies have made population scale whole genome sequencing a possibility. However, current strategies for analysis of this data rely upon parallelization approaches t...Speaker: Peter White, PhD, James HirmasPresented at: Genetics and Genomics Virtual Event Series 2015
OCT 30, 2014 | 6:00 AM
Cancer research is being revolutionized by targeted gene panels, whole exome sequencing (WES), whole genome sequencing (WGS), and transcriptome sequencing (RNA-Seq).Many analyses, such as...Speaker: Naomi ThomsonSEP 16, 2014 | 10:00 AM
Patients with chromosomal rearrangements resulting in fusion proteins are among the most responsive to published targeted therapy. For example, targeting of the EML4-ALK fusion in non-small c...Speaker: Sean Eddy, PhDAUG 21, 2014 | 2:30 PM
Rare disorder analysis has been facilitated by the declining cost of sequencing. Despite numerous success stories the underlying cause remains unexplained in >50% cases, emphasizing the ne...AUG 21, 2014 | 12:45 PM
When whole genome and whole exome sequencing are introduced into health care, and offered directly to consumers in commercial settings, the landscape of genetic testing will drastically chang...AUG 21, 2014 | 12:15 PM
DNASTAR offers an integrated suite of software for assembling and analyzing sequence data from all major next-generation sequencing platforms. DNASTAR software supports a variety of key workf...AUG 21, 2014 | 10:45 AM
For personalized genomic medicine (PGM) to be readily adopted into clinical practice, there is a need for a multidisciplinary team, and a need to educate health care professionals and the...AUG 21, 2014 | 8:45 AM
Whole genomic and exomics sequencing applied clinically is revealing newly discovered genes and syndromes at an astonishing rate. While clinical databases and variant annotation continue to g...AUG 21, 2014 | 8:45 AM
With advances in next-generation sequencing, whole-exome and genome sequencing (WGES) is now accessible as a tool in many applications. In the clinical setting, WGES is proving to be very val...AUG 21, 2014 | 7:30 AM
...AUG 21, 2014 | 6:45 AM
The advent of next generation sequencing technologies has revolutionized the clinical genetics laboratory. Labs offering NGS are faced with an onslaught of sequence variants which must be int...Speaker: Heather McLaughlin, PhD, MB(ASCP)CMPresented at: Genetics and Genomics Virtual Event Series 2014
AUG 20, 2014 | 11:45 AM
Direct-to-consumer (DTC) genetic testing can be understood as including two related aspects: first, the advertising of genetic tests directly to consumers; and second, the direct access or or...AUG 20, 2014 | 11:45 AM
The unanimous Supreme Court ruling of 2013 regarding gene patents made competition for BRCA1 and BRCA2 testing a reality. Within hours of the decision multiple labs began offering more compre...AUG 20, 2014 | 10:30 AM
Genome and exome sequencing are widely used for both basic and clinical research and diagnosis. Although sequencing costs have dropped dramatically and technology and algorithms used for call...AUG 20, 2014 | 8:45 AM
The flexibility of the BioMark Real-Time PCR System, allow us to preform genetic research using different types of nano-fluidic (48.48 or 96.96) chips setup, in the thermal cycle of these chi...AUG 20, 2014 | 7:30 AM
Next Generation Sequencing has revolutionized genomic variant discovery. The major bottle-neck for sequencing projects is the individual, biological sample, library preparation. This platfo...Speaker: Joanna Hamilton, PhD, Lynne Apone, PhD, Zach Smith, MSPresented at: Genetics and Genomics Virtual Event Series 2014
MAR 20, 2014 | 1:00 PM
Using high throughput next-generation sequencing to simultaneously search large number of genes for pathogenic mutations has numerous advantages. It decreases the pressure to narrow the dif...FEB 28, 2014 | 10:00 AM
...Speaker: Christian Marshall, PhD
NOV 11, 2015 | 12:00 PM
DNASTAR offers an integrated suite of software for accurate assembly, alignment, and analysis of sequence data from all major next-generation sequencing platforms, supporting key workflows in...
Speaker:
Matthew Keyser, MS
SEP 15, 2015 | 8:00 AM
Chromosomal microarray analysis (CMA) is an established technology, which has demonstrated great sensitivity and specificity for detecting genome-wide copy number variants (CNVs). CMA represe...
SEP 02, 2015 | 12:00 PM
DNASTAR offers an integrated suite of software for accurate assembly and analysis of sequence data for key NGS workflows, including microbial genome assembly. The DNASTAR assembly software is...
MAY 14, 2015 | 7:30 AM
I will discuss the use of genomic technologies - mostly ultrahigh-throughput DNA sequencing - to study normal human biology and to determine what goes wrong when we have disease. First I wil...
MAY 13, 2015 | 12:00 PM
Technological advances in high throughput, low cost DNA sequencing coupled with the availability of a high quality reference assembly allow us to interrogate the genome with greater precision...
MAY 13, 2015 | 12:00 PM
DNASTAR offers an integrated suite of software for accurate assembly and analysis of sequence data from all major next-generation sequencing platforms supporting key workflows including targe...
MAY 13, 2015 | 10:30 AM
Advanced sequencing technologies have made population scale whole genome sequencing a possibility. However, current strategies for analysis of this data rely upon parallelization approaches t...
Speaker:
Peter White, PhD, James Hirmas
Presented at: Genetics and Genomics Virtual Event Series 2015
OCT 30, 2014 | 6:00 AM
Cancer research is being revolutionized by targeted gene panels, whole exome sequencing (WES), whole genome sequencing (WGS), and transcriptome sequencing (RNA-Seq).Many analyses, such as...
Speaker:
Naomi Thomson
SEP 16, 2014 | 10:00 AM
Patients with chromosomal rearrangements resulting in fusion proteins are among the most responsive to published targeted therapy. For example, targeting of the EML4-ALK fusion in non-small c...
Speaker:
Sean Eddy, PhD
AUG 21, 2014 | 2:30 PM
Rare disorder analysis has been facilitated by the declining cost of sequencing. Despite numerous success stories the underlying cause remains unexplained in >50% cases, emphasizing the ne...
AUG 21, 2014 | 12:45 PM
When whole genome and whole exome sequencing are introduced into health care, and offered directly to consumers in commercial settings, the landscape of genetic testing will drastically chang...
AUG 21, 2014 | 12:15 PM
DNASTAR offers an integrated suite of software for assembling and analyzing sequence data from all major next-generation sequencing platforms. DNASTAR software supports a variety of key workf...
AUG 21, 2014 | 10:45 AM
For personalized genomic medicine (PGM) to be readily adopted into clinical practice, there is a need for a multidisciplinary team, and a need to educate health care professionals and the...
AUG 21, 2014 | 8:45 AM
Whole genomic and exomics sequencing applied clinically is revealing newly discovered genes and syndromes at an astonishing rate. While clinical databases and variant annotation continue to g...
AUG 21, 2014 | 8:45 AM
With advances in next-generation sequencing, whole-exome and genome sequencing (WGES) is now accessible as a tool in many applications. In the clinical setting, WGES is proving to be very val...
AUG 21, 2014 | 7:30 AM
...
AUG 21, 2014 | 6:45 AM
The advent of next generation sequencing technologies has revolutionized the clinical genetics laboratory. Labs offering NGS are faced with an onslaught of sequence variants which must be int...
Speaker:
Heather McLaughlin, PhD, MB(ASCP)CM
Presented at: Genetics and Genomics Virtual Event Series 2014
AUG 20, 2014 | 11:45 AM
Direct-to-consumer (DTC) genetic testing can be understood as including two related aspects: first, the advertising of genetic tests directly to consumers; and second, the direct access or or...
AUG 20, 2014 | 11:45 AM
The unanimous Supreme Court ruling of 2013 regarding gene patents made competition for BRCA1 and BRCA2 testing a reality. Within hours of the decision multiple labs began offering more compre...
AUG 20, 2014 | 10:30 AM
Genome and exome sequencing are widely used for both basic and clinical research and diagnosis. Although sequencing costs have dropped dramatically and technology and algorithms used for call...
AUG 20, 2014 | 8:45 AM
The flexibility of the BioMark Real-Time PCR System, allow us to preform genetic research using different types of nano-fluidic (48.48 or 96.96) chips setup, in the thermal cycle of these chi...
AUG 20, 2014 | 7:30 AM
Next Generation Sequencing has revolutionized genomic variant discovery. The major bottle-neck for sequencing projects is the individual, biological sample, library preparation. This platfo...
Speaker:
Joanna Hamilton, PhD, Lynne Apone, PhD, Zach Smith, MS
Presented at: Genetics and Genomics Virtual Event Series 2014
MAR 20, 2014 | 1:00 PM
Using high throughput next-generation sequencing to simultaneously search large number of genes for pathogenic mutations has numerous advantages. It decreases the pressure to narrow the dif...
FEB 28, 2014 | 10:00 AM
...
Speaker:
Christian Marshall, PhD