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    SOPHiA DDM™ HCS v2.0 Flyer - GL-GN-2300065-r2

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    SOPHiA DDM™ HCS v2.0 Flyer - GL-GN-2300065-r2

    Uploaded by

    WissamMamou
    14 views2 pages

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    SOPHiA DDM™ HCS v2.0 Flyer_GL-GN-2300065-r2 (2)

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    14 views2 pages

    SOPHiA DDM™ HCS v2.0 Flyer - GL-GN-2300065-r2

    Uploaded by

    WissamMamou

    Copyright:

    © All Rights Reserved
    Download as PDF, TXT or read online from Scribd
    Download as pdf or txt
    of 2

    SOPHiA DDM™ Hereditary Cancer Solution (HCS) v2.

    0
    Confidently assess genetic variants predisposing to cancer

    The SOPHiA DDM™ HCS v2.0 is a capture-based NGS application that characterizes challenging
    variants associated with hereditary cancers. It enables researchers to accelerate their research in-house
    with high-quality content and the advanced analytical features of the SOPHiA DDM™ Platform.

    Highlights
    Includes guideline-driven content Detects SNVs, Indels and CNVs, and more complex
    targeting coding and non-coding regions variants such as Alu insertions, Boland Inversion
    in 83 biologically actionable genes. and PMS2/PMS2CL gene conversion.
    Contains hg38-based analytics, built-in Improves laboratory logistics and resource
    sample check ID, and selected UTRs and management with SOPHiA GENETICS™ Universal
    promoter regions. Library Prepa.

    Streamlined end-to-end workflow

    01010
    11101
    01001
    01001
    SOPHiA
    Blood GENETICS™ MiSeq® Raw Variant Variant Filtration, Integrated LIMS /
    Sample Universal NextSeq® NGS Data Detection & Prioritization Reporting EHR
    Library Prep MGI DNBSEQ-G400 Annotation & Visualization Integration

    Guideline-driven content covers 83 biologically actionable genes Full gene Gene hotspots CNVs Promoters/UTRs

    AIP CDKN2A MDH2 PALB2 RB1 SPINK1


    APC CHEK2 MEN1 PDGFRA RET STK11
    ATM CTNNA1 MET PIK3CA RNF43 SUFU
    AXIN2 DICER1 MITF PMS2 SDHA TERC
    BAP1 DLST MLH1 PMS2CL* SDHAF2 TERT
    BARD1 EPCAM MLH3 POLD1 SDHB TGFBR2
    BMPR1A FAM175A MSH2 POLE SDHC TMEM127
    BRCA1 FH MSH3 POT1 SDHD TP53
    BRCA2 FLCN MSH6 PRKAR1A SEC23B TSC1
    © SOPHiA GENETICS 2023 GL-GN-2300065-r2

    BRIP1 GREM1 MUTYH PRSS1 SLC25A11 TSC2


    CDC73 HOXB13 NBN PTCH1 SMAD4 VHL
    CDH1 KIT NF1 PTEN SMARCA4 WRN
    CDK4 LZTR1 NF2 RAD51C SMARCB1 WT1
    CDKN1B MAX NTHL1 RAD51D SMARCE1
    *pseudogene.

    HIPAA For Research UseFor


    Only. NotUse
    Research forOnly.
    use Not
    in diagnostic procedures.
    for use in diagnostic procedures.
    Excellent analytical performance1

    Median Median Sensitivityc Precisionc


    coverage
    uniformityb
    on-target rateb
    100% 100% for SNV
    and 98.5%
    (incl. flank target)
    for SNV and Indel
    99.99% 88.3% detection for Indel detection

    Comprehensive output files for analysis and reporting


    NEW
    NEW Quality metrics (.pdf) New reporting tool (.pdf or .json)
    NEW
    FEATURE
    NEW NEW

    Quality indicators HGVS annotation Indels status

    Alignment (.bam) Genotype (.vcf) CNVs status

    NEW

    Predefined ID SNPs Coverage depth Variant fraction

    NEW NEW

    Sample check ID SNV status Alu status

    NEW

    Full variant table (.txt/.vcf) CNVs flagging & individual CNV reporting

    Sample report for illustrative purposes only.

    The SOPHiA DDM™ HCS v2.0 has comprehensive, guideline-driven content that
    Unimore | Modena, Italy
    ensures we're obtaining the most relevant insights from genomic data. The expanded
    capabilities available on the SOPHiA DDM™ Platform, including built-in sample check ID
    and HGVS annotation, makes it the optimal solution for timely, in-house results on
    complex mutational analysis.

    Specifications
    Covered diseases Breast, ovarian, endometrial, prostate, abdominal, endocrine and neuroendocrine,
    nervous, renal, and skin cancers

    Input amount 50 ng DNA

    Multiplexing for > 250x • 16 for Illumina MiSeq® v3 (2x200bp), 8-12 for v2 (2x150bp)
    coverage depth • 48 for Illumina NextSeq® 2000 P1, 192 for P2
    • 72 for Illumina NextSeq® 500/550 mid-output, 192 for high-output
    • 96* for MGI DNBSEQ-G400, FCL, 1 lane of 4 (2x200)
    *theoretical estimated maximum number of samples to be multiplexed, assuming 900 million reads per lane, and considering available kit size.

    Automation scripts Available for Hamilton Clinical Starlet and Hamilton Star

    SOPHiA DDM™ Hereditary Cancer Solution (HCS) v2.0 is for research use only –

    Want to know more?


    not for use in diagnostic procedures.
    aAvailable for Research Use Only SOPHiA DDM™ Oncology and Rare and Inherited Disease applications. bBased
    on analysis of 16 blood samples using Illumina NextSeq® 550 sequencer. cBased on analysis of 17 blood samples
    Contact us at: [email protected] using Illumina NextSeq® 550 sequencer. 1Data on File. CNV, copy number variation; HGVS, human genome
    variant society; NGS, next generation sequencing; SNV, single nucleotide variant. © 2023 SOPHiA GENETICS™. All
    rights reserved. All product and company names are trademarks™ or registered® trademarks of their respective
    holders. Use of them does not imply any affiliation with or endorsement by them.

    HIPAA For Research UseFor


    Only. NotUse
    Research forOnly.
    use Not
    in diagnostic procedures.
    for use in diagnostic procedures.

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