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BioDiscovery Inc
Приєднався 1 вер 2011
Information on genomics data analysis including copy number variation from NGS and microarray technologies, gene and miRNA analysis and image quantification.
A retrospective evaluation of 211 clinical referrals for intellectual disability testing.
The SAP scores for reported variants were evaluated retrospectively in order to assess their potential utility in variant filtering and classification. 211 routine diagnostic referrals analyzed using our integrated clinical exome pipeline were assessed. All included variants were discussed at multidisciplinary team meetings prior to reporting. Majority of the included variants were classed as VUSs and the associated SAP scores were evaluated for their utility in potential sub-classification of VUSs. Several clinical cases will be presented to illustrate our integrated analysis pipeline, including ‘genotype first’ scenarios, cases with more than one genetic diagnosis, tissue specific chimerism case and more.
Переглядів: 131
Відео
Integrated analysis of SNVs, CNVs, & AOH facilitates accurate diagnosis
Переглядів 3544 роки тому
Dr. Jenny Ji evaluates how combined analysis of sequence variants, copy number alterations, and regions of homozygosity provides valuable clinical information for the diagnosis of both Mendelian disorders and pediatric cancers. In this talk she will discuss, - Test strategies and workflows used in CHLA laboratories - Inefficiencies with use of multiple tools - Real life cases to demonstrate the...
Increased diagnostic accuracy for Mendelian disorders and pediatric cancers
Переглядів 1025 років тому
Increased diagnostic accuracy for Mendelian disorders and pediatric cancers
Interview with Dr. Sarah Murray, Director, University of California San Diego
Переглядів 3475 років тому
Interview with Dr. Sarah Murray, Director, University of California San Diego
Interview with Dr. Madhuri Hedge, Vice President / CSO , Perkin Elmer Genomics
Переглядів 5505 років тому
Interview with Dr. Madhuri Hedge, Vice President / CSO , Perkin Elmer Genomics
Interview with Dr. Ben Darbro, Director of Cytogenetics and Molecular Laboratory, University of Iowa
Переглядів 2665 років тому
Interview with Dr. Ben Darbro, Director of Cytogenetics and Molecular Laboratory, University of Iowa
Interview with Dr. Trilochan Sahoo, Vice President of Clinical Affairs and Director of Cytogenetics,
Переглядів 1805 років тому
Interview with Dr. Trilochan Sahoo, Vice President of Clinical Affairs and Director of Cytogenetics,
BioDiscovery: Customer Testimonials
Переглядів 1,2 тис.5 років тому
We are a leading genomic software company enabling advances in genomic research and clinical diagnostics around the globe. Learn more at www.biodiscovery.com
Highlights of NxClinical 4.1 Improved Sequence Variant Interpretation and Support
Переглядів 5026 років тому
This webinar is geared towards those involved with genomic variation analysis and interpretation in a cytogenetics or molecular genetics lab.
Combined Analysis & Interpretation of CNV, AOH, and Seq Var of FFPE Cancer Samples from a NGS Panel
Переглядів 2886 років тому
Speaker: Dr. Sarah Murray, Director of Genomics Technologies, University of California San Diego
Genetic Basis of Pregnancy Loss
Переглядів 2,1 тис.6 років тому
It is estimated that 15-20% of clinically recognized pregnancies end in miscarriage and at least 50% of these losses result from a chromosomal abnormality.
NxClinical 4 CNV, SeqVar, and AOH from a single NGS assay
Переглядів 5326 років тому
This webinar is geared towards those involved with genomic variation analysis and interpretation in a cytogenetics or molecular genetics lab.
Challenges and Solutions to Copy Number Estimation from Whole Exome Sequencing in Tumors
Переглядів 2526 років тому
This webinar is geared towards those requiring copy number results from low coverage sequencing results (shallow/targeted) and/or from normal coverage WGS/WES results.
Maximize Your Data: Copy Number Estimation from Methylation Arrays, NGS and SNP Microarrays
Переглядів 2418 років тому
After you’ve studied the methylation profile and sequenced the exomes of a series of samples, what else can you do with the data?
Get Copy Number Results from WES WGS targeted panel NGS
Переглядів 3728 років тому
Watch this webinar to see just how easy and straightforward it is to import BAM files in Nexus Copy Number to detect copy number events.
Detecting CNVs from Whole Exome Sequencing Data Using Nexus Copy Number
Переглядів 2,8 тис.8 років тому
Detecting CNVs from Whole Exome Sequencing Data Using Nexus Copy Number
Whole Genome MAQ in Nexus Copy Number software 7.5 - A fast, simple, and integrated tool.
Переглядів 938 років тому
Whole Genome MAQ in Nexus Copy Number software 7.5 - A fast, simple, and integrated tool.
Comparative cytogenomics - a translational approach to accelerate cancer gene discovery
Переглядів 558 років тому
Comparative cytogenomics - a translational approach to accelerate cancer gene discovery
Evolution of Software Tools for CNV Interpretation
Переглядів 2698 років тому
Evolution of Software Tools for CNV Interpretation
Genomic studies of neurodevelopmental disorders: the move from arrays to sequencing
Переглядів 71110 років тому
Genomic studies of neurodevelopmental disorders: the move from arrays to sequencing
TCGA Premier -- Curated CNVs for improved, efficient, and more accurate analysis
Переглядів 43410 років тому
TCGA Premier Curated CNVs for improved, efficient, and more accurate analysis
BioDiscovery's Nexus Copy Number software for CNV analysis from Affymetrix Axiom ar
Переглядів 1,9 тис.10 років тому
BioDiscovery's Nexus Copy Number software for CNV analysis from Affymetrix Axiom ar
Estimating copy number from sequencing platforms -- overview of methods (CoNIFER, xHMM, ngCGH)
Переглядів 1,6 тис.10 років тому
Estimating copy number from sequencing platforms overview of methods (CoNIFER, xHMM, ngCGH)
Cancer Survival Analysis with Nexus Copy Number 7
Переглядів 57611 років тому
Cancer Survival Analysis with Nexus Copy Number 7
Copy Number and Allelic Event Measurement from SNP Arrays
Переглядів 16 тис.11 років тому
Copy Number and Allelic Event Measurement from SNP Arrays
Dealing with Aneuploidy in DNA Copy Number Analysis
Переглядів 57411 років тому
Dealing with Aneuploidy in DNA Copy Number Analysis
ASCAT Algorithm for Copy Number Analysis of Tumors Using SNP Arrays
Переглядів 4,7 тис.11 років тому
ASCAT Algorithm for Copy Number Analysis of Tumors Using SNP Arrays
Constitutional and Cancer Sample Review for Cytogeneticists: Copy Number and Seq. Variant Analysis
Переглядів 39311 років тому
Constitutional and Cancer Sample Review for Cytogeneticists: Copy Number and Seq. Variant Analysis
Integrated analysis of sequence variations and CNVs in TCGA data with Nexus Copy Number 7
Переглядів 1,9 тис.11 років тому
Integrated analysis of sequence variations and CNVs in TCGA data with Nexus Copy Number 7
Thank you that was helpful ❤
Beautifully explained. Thank you!
great! thanks
Is it human voice?.....lol
If you can't understand just put captions on lol
bngo
You already know what’s up 😂 btw nice profile pic @ Berk! Do you go there?
Welcome to Bionano Genomics... Welcome, Home. Frunkla says so!.
I wish I could understand the voice seems like it would be a good bit of info. But it shows scientists know nothing about audio.
Interesting!
Thank you very much!!
can you guys post the slides for these educational videos?
Interesting
Potato ?
Terrible sound!!
Cheers for this, been searching for "cosmic egg full album" for a while now, and I think this has helped. Have you heard people talk about - Graysongon Materialize Miraculous - (do a search on google ) ? Ive heard some pretty good things about it and my work buddy got great results with it.
Hi, What is the name of the software you used at ~ 9min20?
Which tool you are using? Thanking you
why cant the A allele frequency be computed simultaneously?
It's redundant to do so
Very informative video but Voice quality is really bad.
What is a "probe distribution"??
HIDDEN MARKET MODEL ??? XD
Ooops. Typo. Should be Hidden Markov Model. :)
Could you little bit explain what are those numbers for on left and right side of figure?
The numbers on the left are log 2 values of the numbers on the right. The ones on the right are the ratios of the fold change in signal intensity of the array probes (experimental:control). E.g. 2 for the control samples in the ratio represents two copies of DNA, 1 for the expt. would mean a copy loss, a 3 for the experimental would mean a copy gain.
Thank you Dr sean Davis , can you upload some tutorial for SNPs variant discovery
did you record the sound with a potato? Jw cuz i also have sound issues when using potatoes to record.
Maybe his head was stuck in his anus
This made my day!
Awesome videos! In the case of not having an SNP-array, but dó having exomeseq data; how would you correct for the offset in log-ratio?
WOuld be MUCH better if you had higher quality audio.
clear content but poor sound quality. Thanks anyway
Nice
Thank you for the suggestion. We have added the link to the description.
thanks, might also want to add a see also links at description for people not wanting to retype: github.com/seandavi/ngCGH
awful sound quality..