Suche senden
Hochladen
The Next, Next Generation of Sequencing - From Semiconductor to Single Molecule
•
6 gefällt mir
•
2,663 views
Justin Johnson
Folgen
Technologie
Gesundheit & Medizin
Melden
Teilen
Melden
Teilen
1 von 53
Empfohlen
Alignment algorithms are not just about placing reads in best-matching locations to a reference genome. They are now being expected to handle small insertions, deletions, gapped alignment of reads across intron boundaries and even span breakpoints of structural variations, fusions and copy number changes. At the same time, variant-calling algorithms can only reach their full potential by being intimately matched to the aligner's output or by doing local assemblies themselves. Knowing when these tools can be expected to perform well and when they will produce technical artifacts or be incapable of detecting features is critical when interpreting any analysis based on their output. This presentation will compare the performance of the alignment and variant calling tools used by sequencing service providers including Illumina Genome Network, Complete Genomics and The Broad Institute. Using public samples analyzed by each pipeline, we will look at the level of concordance and dive into investigating problematic variants and regions of the genome.
Knowing Your NGS Upstream: Alignment and Variants
Knowing Your NGS Upstream: Alignment and Variants
Golden Helix Inc
This EMC Isilon sizing and performance guideline White Paper reviews the Key Performance Indicators (KPIs) that most strongly impact the production processes for the storage of data from Next-Generation Sequencing (NGS) workflows.
White Paper: Next-Generation Genome Sequencing Using EMC Isilon Scale-Out NAS...
White Paper: Next-Generation Genome Sequencing Using EMC Isilon Scale-Out NAS...
EMC
Ngs part i 2013
Ngs part i 2013
Elsa von Licy
NGS DNA TECHS
2011 jeroen vanhoudt_ngs
2011 jeroen vanhoudt_ngs
Din Apellidos
Introduction to RNASeq Data Generation and Quality Control
Rnaseq basics ngs_application1
Rnaseq basics ngs_application1
Yaoyu Wang
SANGER SEQUENCING - 1st generation sequencing Sanger Sequencing Workflow: PCR amplification (target enrichment) PCR purification (primer, dNTPs) Sequencing reaction (bi-directional) Sequencing purification (primer, dNTPs, ddNTPs) Electrophoretic run on sequencer Sequencing lecture Alignment to reference SANGER SEQUENCING: LIMITATIONS Analytical sensitivity*: 99% PCR-Based no detection deletion/duplication rearrangements del/dup BRCA = 4-28% of all BRCA mutations in most population** Level of mosaicism > 20% Low throughput (82496 capillary tubes) Labor intensive Time consuming High cost (large size gene or more genes)
20160219 - S. De Toffol - Dal Sanger al NGS nello studio delle mutazioni BRCA