AGBT 2013: Home Brewed Personalized Genomics - The Quest for Meaningful Analy...Golden Helix Inc
Personalized genomics may be moving into a new era with whole-exome and whole-genome sequencing becoming affordable and available to consumers. 23andMe recently piloted a more affordable 80x exome to their existing customers. But it remains to be seen whether this wealth of raw genomic data can be analyzed to provide meaningful results for both healthy and symptomatic individuals.
By acquiring 23andMe exomes on his family, Gabe puts himself in the position of a bioinformatically inclined consumer, but non-clinician, to approach this question with his own analysis. His trio consists of a healthy father and son, and a mother with clinically-diagnosed idiopathic rheumatoid arthritis.
The following goals were set for the analysis: 1) How accurate are variant calls from direct-to-consumer NGS services? 2) How useful and durable is the list of risk variants provided by 23andMe? 3) Can a healthy individual's exome provide additional risk information over standard genotype-array-based risk prediction? and 4) Can the state of our current understanding of the complex genomic architecture of autoimmune diseases be enough to to find potential driver variants and genes to explain the diagnosis of a single case?
Here Gabe presents his findings of this analysis and discuss how individualized genomics might change in the world of affordable sequencing.
MM-KBAC – Using Mixed Models to Adjust for Population Structure in a Rare-var...Golden Helix Inc
Confounding from population structure, extended families and inbreeding can be a significant issue for burden and kernel association tests on rare variants from next generation DNA sequencing. An obvious solution is to combine the power of a mixed model regression analysis with the ability to assess the rare variant burden using methods such as KBAC or CMC. Recent approaches have adjusted burden and kernel tests using linear regression models; this method adjusts for the relatedness of samples and includes that directly into a logistic regression model.
ΠΡΟΓΡΑΜΜΑ ΑΓΩΓΗΣ ΣΤΑΔΙΟΔΡΟΜΙΑΣ
"Παπούτσι απ΄τον τόπο σου.....
Παραδείγματα επιχειρηματικής- παραγωγικής δραστηριότητας στο χωριό μου.... Φούρνος",
από τις μαθήτριες της Γ΄τάξης του Γυμνασίου Νέου Σκοπού,
Κωνσταντινίδου Κωνσταντίνα, Πέτρου Μαρία.
Υπεύθυνος καθηγητής: Σαρηβασιλείου Χαράλαμπος.
Στα πλαίσια του προγράμματος Erasmus+ οι μαθητές του Γυμνασίου Νέου Σκοπού διαγωνίζονται για την ανάδειξη του καλύτερου logo που θα είναι το έμβλημα του project : "Help the earth: reduke, reuse, recycle" καθ΄όλη τη διάρκεια του προγράμματος.
AGBT 2013: Home Brewed Personalized Genomics - The Quest for Meaningful Analy...Golden Helix Inc
Personalized genomics may be moving into a new era with whole-exome and whole-genome sequencing becoming affordable and available to consumers. 23andMe recently piloted a more affordable 80x exome to their existing customers. But it remains to be seen whether this wealth of raw genomic data can be analyzed to provide meaningful results for both healthy and symptomatic individuals.
By acquiring 23andMe exomes on his family, Gabe puts himself in the position of a bioinformatically inclined consumer, but non-clinician, to approach this question with his own analysis. His trio consists of a healthy father and son, and a mother with clinically-diagnosed idiopathic rheumatoid arthritis.
The following goals were set for the analysis: 1) How accurate are variant calls from direct-to-consumer NGS services? 2) How useful and durable is the list of risk variants provided by 23andMe? 3) Can a healthy individual's exome provide additional risk information over standard genotype-array-based risk prediction? and 4) Can the state of our current understanding of the complex genomic architecture of autoimmune diseases be enough to to find potential driver variants and genes to explain the diagnosis of a single case?
Here Gabe presents his findings of this analysis and discuss how individualized genomics might change in the world of affordable sequencing.
MM-KBAC – Using Mixed Models to Adjust for Population Structure in a Rare-var...Golden Helix Inc
Confounding from population structure, extended families and inbreeding can be a significant issue for burden and kernel association tests on rare variants from next generation DNA sequencing. An obvious solution is to combine the power of a mixed model regression analysis with the ability to assess the rare variant burden using methods such as KBAC or CMC. Recent approaches have adjusted burden and kernel tests using linear regression models; this method adjusts for the relatedness of samples and includes that directly into a logistic regression model.
ΠΡΟΓΡΑΜΜΑ ΑΓΩΓΗΣ ΣΤΑΔΙΟΔΡΟΜΙΑΣ
"Παπούτσι απ΄τον τόπο σου.....
Παραδείγματα επιχειρηματικής- παραγωγικής δραστηριότητας στο χωριό μου.... Φούρνος",
από τις μαθήτριες της Γ΄τάξης του Γυμνασίου Νέου Σκοπού,
Κωνσταντινίδου Κωνσταντίνα, Πέτρου Μαρία.
Υπεύθυνος καθηγητής: Σαρηβασιλείου Χαράλαμπος.
Στα πλαίσια του προγράμματος Erasmus+ οι μαθητές του Γυμνασίου Νέου Σκοπού διαγωνίζονται για την ανάδειξη του καλύτερου logo που θα είναι το έμβλημα του project : "Help the earth: reduke, reuse, recycle" καθ΄όλη τη διάρκεια του προγράμματος.
Making a Difference Through Research: Myers-JDC-Brookdale 40th Anniversary Br...mjbinstitute
Celebrating 40 years of the Myers-JDC-Brookdale Institute, with testimonials from key partners and highlights of research impacts. Learn how MJB has used applied socal research to help shape Israel's social policy and social service landscape since 1974.
Using Public Access Clinical Databases to Interpret NGS VariantsGolden Helix Inc
In this webcast on February 19th, Gabe Rudy, Vice President of Product Development, will showcase publicly available databases and resources available for interpreting rare and novel mutations in the context of his own personal exome obtained through a limited 23andMe pilot in 2012.
The last couple years have seen many changes in well-established resources such as OMIM and dbSNP, while motivating new efforts such as ClinVar and PhenoDB to bring NGS interpretation to clinical grade through a global data sharing effort.
In this webcast, Gabe will cover:
The changing landscape of public annotations: Then, Now, and Soon.
Will the new human reference (GRCh38) released in December be a game changer?
Specific examples of improvements in annotation and algorithms that result in more accurate analysis of his own exome.
The utility and progress of NGS to different clinical applications in terms of public resources: carrier screening, hereditary cancer risk, pharmacogenomics, oncology care, and genetic disorder diagnosis.
Sharing of new clinical data: How both variation and phenotype level data is currently being shared and what will be the way forward to match rare and undiagnosed cases at a global scale.
Getting Started with VSWarehouse - The User ExperienceGolden Helix Inc
Built on the algorithms and high-performance storage technology that powers the VarSeq software, VSWarehouse offers a scalable, multi-project warehouse for NGS variant call sets, clinical reports, and a knowledge base of variant classifications.
Στα πλαίσια του μαθήματος της Αρχαίας Ελληνικής Ιστορίας,
οι μαθήτριες της Α΄1 τάξης του γυμνασίου Νέου Σκοπού, Καμακάμη Ευαγγελία και Κουζουτζίδου Παρασκευή,παρουσιάζουν τη Διατροφή στην Αρχαία Ελλάδα
