genomic data interpretation solution: alamut...
TRANSCRIPT
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POWERED BY
Dr. André Blavier, MD-MSScientific Director - Interactive Biosoftware, a SOPHiA GENETICS company
Genomic data interpretation solution:Alamut powered by SOPHiA
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• Variability of the human genome
• Rarity of disease-causing variants
• Limited understanding of molecular mechanisms
→ Interpretation is challenging1/3 of ClinVar variants classified as “Uncertain Significance”
The interpretation challenges
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Diving deep into genomic variants
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AlignmentAlignment VariantCallingVariantCalling AnnotationAnnotation FilteringFiltering ReportingReporting
Secondary Analysis
……
Tertiary Analysis
Alamut offerings
PrimaryAnalysis
SequencerSequencer
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Alamut database
HUGOGenes
PUBMEDAbstracts
UCSC GENOME BIOINFORMATICSConservation
NCBIREFSEQ
ENSEMBL
GenomeTranscripts DBSNP
GNOMADNHLBI GO ESP1000GCLINVARCOSMIC
Variants
EMBL-EBIINTERPROENSEMBL
DomainsOrthologues
LOVDLSDBs
UNIPROTProteins
Missense variants
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AlignmentAlignment VariantCallingVariantCalling AnnotationAnnotation FilteringFiltering ReportingReporting
PrimaryAnalysis
Secondary Analysis
……
Tertiary Analysis
Alamut offerings
SequencerSequencer
Advanced variant exploration
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Graphic interface
Publicbiological data
Local database
Alamut Genova
Predictionalgorithms
Private data
ReportingVariant datamanagement Shared database
+
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Main features
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Full genome browser
Covering the entire human genome
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Full genome browser• Structural variants, CNVs• Intergenic annotations, e.g. regulatory features
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Full genome browser
• Mitochondrial genome
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Gene view
Redesigned to make it better
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New splicing track and predictions
SPiCE (Leman et al. NAR 2018) - soon available
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Implementation of ACMG/AMP guidelines
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3D protein visualization
Toward protein level predictions
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Comprehensive report_1
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Comprehensive report_2
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Benefits
Save time Increase productivity Improve quality
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