genomic data interpretation solution: alamut...

POWERED BY

Dr. André Blavier, MD-MSScientific Director - Interactive Biosoftware, a SOPHiA GENETICS company

Genomic data interpretation solution:Alamut powered by SOPHiA

• 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

© SOPHiA GENETICS 2018 2

Diving deep into genomic variants


AlignmentAlignment VariantCallingVariantCalling AnnotationAnnotation FilteringFiltering ReportingReporting

Secondary Analysis

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Tertiary Analysis

Alamut offerings

PrimaryAnalysis

SequencerSequencer


Alamut database

HUGOGenes

PUBMEDAbstracts

UCSC GENOME BIOINFORMATICSConservation

NCBIREFSEQ

ENSEMBL

GenomeTranscripts DBSNP

GNOMADNHLBI GO ESP1000GCLINVARCOSMIC

Variants

EMBL-EBIINTERPROENSEMBL

DomainsOrthologues

LOVDLSDBs

UNIPROTProteins

Missense variants


AlignmentAlignment VariantCallingVariantCalling AnnotationAnnotation FilteringFiltering ReportingReporting

PrimaryAnalysis

Secondary Analysis

……

Tertiary Analysis

Alamut offerings

SequencerSequencer

Advanced variant exploration


Graphic interface

Publicbiological data

Local database

Alamut Genova

Predictionalgorithms

Private data

ReportingVariant datamanagement Shared database

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Main features


Full genome browser

Covering the entire human genome


Full genome browser• Structural variants, CNVs• Intergenic annotations, e.g. regulatory features


Full genome browser

• Mitochondrial genome


Gene view

Redesigned to make it better


New splicing track and predictions

SPiCE (Leman et al. NAR 2018) - soon available


Implementation of ACMG/AMP guidelines


3D protein visualization

Toward protein level predictions


Comprehensive report_1


Comprehensive report_2


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genomic data interpretation solution: alamut...

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