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Fall 2026 Release

Fall 2026Release

Introducing our new PGx module, SomaHRD v2, and more than 80 features and improvements, all IVDR certified from day one, so labs can give more patients a clear answer, sooner.

80+Features
IVDRCertified
20Worksets
1New module
Explore the release

Every feature,at a glance.

Pick your area: what matters to you moves to the top of every section.

SpotlightNEW!

SeqOne PGxPharmacogenomics, now in the SeqOne Platform.

Turn the sequencing data you already generate into drug-response insight. No new assay, no new sample.

SpotlightNew version

SomaHRD v2HRD testing, re-engineered.

Clear, reproducible HRD calls, even on the low-coverage, low-tumor samples where answers are hardest to get.

Introducing

SeqOne PGx,

pharmacogenomics, from the same run, in the same platform.

Pharmacogenomics, without a new test. SeqOne PGx runs on the sequencing data your lab already generates, no separate assay, no new sample, no added turnaround time. It's now an official part of the platform, not a preview.

  • Star-allele calling and metabolizer phenotypes for the core pharmacogenes clinicians ask about most, including CYP2D6, CYP2C19, CYP2C9, DPYD, TPMT, NUDT15 and SLCO1B1.
  • HLA-A/-B/-C typing, flagging the alleles tied to severe, sometimes life-threatening drug reactions, for drugs like abacavir, carbamazepine, allopurinol, vancomycin and dapsone.
  • Guidance consolidated from CPIC, DPWG, FDA, PharmVar and ClinPgx, browsable by gene or by drug, and traceable back to the call that produced it.
  • A modular, branded PGx report, previewed before generation and exported as a PDF, so it fits your lab's existing reporting workflow.
  • Available on WGS projects.
  • Deterministic, reproducible calling — the same input always produces the same result.
New version

SomaHRD v2,

the HRD test, re-engineered.

Homologous recombination deficiency, called reliably on the material an oncology lab actually has. A rebuilt algorithm, validated against the reference assay, and locked so the same sample always returns the same score.

  • Validated against the reference assay. 97.1% concordance with Myriad MyChoice CDx on PAOLA-1 (n=355), and a PFS hazard ratio of 0.23 (95% CI 0.16–0.32, p<0.001) in the olaparib arm.
  • Answers where the reference test could not. Across PAOLA-1, Myriad MyChoice CDx returned a non-conclusive result on 26 samples. SomaHRD v2 assigned a definitive HRD status to 23 of them.
  • Reliable where FFPE material is thin. Results from as little as 0.1x coverage (stable from 0.3x) and 20% tumor content, with a 4.8% non-conclusive rate on PAOLA-1, around 3% on real-world samples.
  • Readouts you can act on. Confidence intervals, QC gates and a genome-wide instability view with every call, plus RAD51B biallelic loss and CCNE1 amplification flags. A dedicated QC profile, and a report in five languages.
  • Deterministic and locked. A fixed, versioned classifier, so scores are fully reproducible. Validated on Illumina and Element Biosciences.

Download the SomaHRD v2 white paper

SomaHRD v2: the GI status and probability call, over the genome-wide instability plot

Every variant,within reach.

Events you couldn't call before, files you can now bring in, and fusions handled end to end.

Nothing in this part is specific to .

Somatic

RNA Fusion Viewer

Fusions, handled end to end

A fusion is no longer something you only look at. Open it, classify it, read the evidence, and report it, in one workflow.

  • New table and details drawer, with IGV on the right build
  • Classification and classification history
  • Clinical evidence and matched trials from Genomenon CKB
  • Fusions join the Selection and the clinical report
The rebuilt RNA Fusion Viewer, with the Fusions tab lifted out
Germline

Large inversions, now visible

Test for what you couldn't before

Large inversions now show up in your WES and panel data, including the inversion events a hereditary cancer panel depends on, such as the Boland inversion in MSH2 (Lynch syndrome).

  • Inversions above 10 kb, reviewed in the Large Variant Viewer
  • Opens the door to inversion-dependent conditions you couldn't previously call with confidence
An inversion breakpoint in the read view, with split reads either side
Germline

“Not covered” vs. “reference”

A clearer distinction

GermVar Family now distinguishes “not covered” from “reference” on a per-family-member basis, removing a common source of ambiguity in family review.

  • Per-member distinction between the two states
  • Available in GermVar Family
  • Parents' depth always filled in, so de novo calls no longer show N/A coverage
Per-member coverage states, with the not-covered positions flagged
Germline

GermVar Tertiary

Bring your own files

Bring your own BAM or genome browser track files for read-level confirmation, for instance in the field's most challenging paralogous regions, and report with confidence on genes tied to conditions like spinal muscular atrophy, congenital adrenal hyperplasia and Lynch syndrome.

  • BAM data supports read-level confirmation in known paralogous regions (PMS2, SMN1/2, CYP21A2)
  • BAF evidence derived directly from the input VCF
  • Bring TN, BAF, CN and other track data into the Genome Browser to evaluate CNV evidence
  • An STR viewer for ExpansionHunter files, with several diseases per locus
  • Add ploidy estimation data for interpretation
Your own BAM loaded in the Genome Browser: reads stacked at a PMS2 variant
Platform

Quick IGV lookup

The reads, right from the variant table

Every genome browser in the platform now runs on igv.js 3, and a quick IGV lookup sits on every variant row. Hover to see the reads at the variant, click to open the whole family.

  • Hover a variant row for a quick read preview, click for the whole family
  • Faster alignments: BAMs prefetched, one browser reused across rows
  • igv.js 3 in every viewer: variant, large variant, CNV and fusion
  • View as pairs on first click, inserted bases in the insertion popup
  • With 4+ BAMs, tracks load on demand, with a Retry button if one fails
Quick IGV lookup: a compact IGV preview over the variant table, then the full family in igv.js 3 with View as pairs and an insertion popup
Somatic

SomaLBx variant control

Every variant retained, you decide

SomaLBx no longer applies hard PASS filtering in the pipeline: every variant is retained, and you choose what to screen out in the viewer.

  • No hard PASS filtering at the pipeline stage
  • Every variant retained for review
  • New VCF Filter menu in the viewer
The new VCF Filter menu, open

Classify with confidence,from first pass to final report.

A redesigned ACMG workflow for germline, a new oncogenicity axis for somatic, and every call carried through to the signed report.

Nothing in this part is specific to .

Germline

ACMG classification

Up to date, simple to validate, reused everywhere

We rebuilt ACMG from the engine up. The automatic classification follows the latest ClinGen guidance, reviewing it takes a few clicks, and the classification you validate is saved and reused across SeqOne, for SNVs as well as CNVs and SVs.

The ACMG tab: SeqOne-suggested tags reviewed and accepted, a ClinGen VCEP specification callout for BRCA2, PP4 added at Moderate from the matrix with a justification, the ClinGen eRepo classification applied in one click, then the validated classification reused in the report, DiagAI Autofill and the Public API
Engine

On the latest guidelines

  • ClinGen point-based scoring or ACMG/AMP 2015 rules, your lab's choice
  • gnomAD FAF95 for BA1, BS1 and PM2, with VCEP gene-specific cut-offs (BRCA2 included)
  • Criteria a VCEP excludes are left out for that gene, and PS1 now covers splice variants
Review

Validation made simple

  • A criteria matrix showing applied, suggested and not met, each editable in one click
  • Adjust the strength, add a justification or a private note
  • ClinGen CSpec callouts, and eRepo classifications applied in one click
  • A summary paragraph, ready to paste
Reuse

Saved once, used everywhere

  • Saved to the Selection and the VKB with author and date, and found again in later analyses
  • Reused in the clinical report, DiagAI Autofill and the Public API
  • The same workflow for CNVs and SVs, including SV duplications and deletions
Somatic

Oncogenicity classification

A new lens on every somatic variant

Oncogenicity is now a classification of its own. Every somatic SNV and indel gets an automatic call based on ClinGen/CGC/VICC guidelines, auditable criterion by criterion, and short variants, CNVs and fusions can all be classified in the same drawer. The class then follows each variant through to the report.

The oncogenicity scale and its VICC tags, lifted out of the classification drawer
Engine

Automatic, on VICC guidelines

  • An automatic call for every somatic SNV and indel, from Oncogenic to Benign, in an Auto Onco column
  • Hotspot and known-oncogenic, population, computational, synonymous and loss-of-function criteria
  • A separate call from ACMG pathogenicity, which stays unchanged
Review

Auditable, criterion by criterion

  • An Oncogenicity tab with the class, the score and the criteria grouped by evidence type
  • A full criteria matrix: met, not met or not evaluated
  • Accept, overrule or bulk-apply, with the class recomputing as you go
  • A summary paragraph, ready to paste
Everywhere

One axis, every variant type

  • Manual oncogenicity for short variants, CNVs and RNA fusions, in the same drawer
  • Pathogenicity and oncogenicity side by side in one column, and filterable
  • Oncogenic and Likely Oncogenic pre-selected for reporting, and kept in the classification history
Germline

CNV review and reporting

Classify and report, faster

Review, classify and report CNVs without leaving the page, with variant comments that write themselves from your annotations and decisions, such as the ACMG criteria applied.

  • Report events by the clinical impact of each gene or region
  • ACMG CNV sliders for interactive scoring, with direct links out to Decipher
  • A genotype column for every family member, with genotype and inheritance filters
The ACMG CNV sliders mid-scoring
Platform

Classification experience

Everything you need, in one view

Variant details stay open next to the drawer, so you never lose context mid-call.

  • Drawer and variant details, side by side
  • Resize drawers with a simple click and drag
  • A private internal note, for reasoning that stays out of the report
  • Classify, Add to selection and Mark as viewed in one click, with C and Esc shortcuts
  • Classes shown as P, LP, VUS, LB and B on screen (if #17649 passes QA)
Classification drawer and variant details, side by side
Germline

Clinically relevant transcripts on top

The Variant table now shows the most clinically relevant transcript first for every variant, so the right information is on screen without opening the dropdown.

  • MANE Select always comes first, then MANE Clinical Plus
  • Other transcripts ranked by variant effect and an improved RefSeq ordering
  • Higher priority for non-coding transcripts
  • About 40% fewer trips to the transcript dropdown
The transcript table: MANE Select and Clinical Plus transcripts flagged at the top, with their HGVS and effect

Evidence first,always at hand.

Scored literature for germline variants, trials and cancer data for somatic ones: the evidence now comes to you on the variant page.

Nothing in this part is specific to .

Germline

LitFinder

Literature comes to you

Stop combing through the literature variant by variant. From the new Literature tab, LitFinder returns up to ten articles, each scored out of 100 with its reasoning alongside.

  • Searches ClinVar, ClinGen, LitVar2 and PubTator3 in one go, widening to nearby variants, the gene and Consensus when needed
  • Each score weighs relevance to the variant, strength of evidence, soundness of method and fit with the patient
  • Suggests the ACMG criteria each article supports (PS3, PS4, PP1)
  • Sort by score or date, and copy a PMID
  • Add an article to the report in one click, cited in the variant comment
  • Available on GermVar and germline worksets, for SNVs and small indels
LitFinder: literature counts per source on the variant page
Germline

DiagAI Autofill for CNVs

A first draft of every CNV comment

Autofill now drafts the interpretation comment for germline CNVs, for you to review and validate.

  • Covers dosage class, zygosity and transmission modes
  • In the Large Variant Viewer and Exome Viewer
  • About 40% faster, in your chosen language
DiagAI Autofill drafting the variant description of a 9.84 Mb 5p15 copy loss in the classification drawer
Somatic

Clinical trials

Matched to your patient's variants

A Clinical Trials tab in the Evidences panel surfaces relevant trials for short variants and CNVs, without a separate search.

  • NCT ID, phase, therapies, indications, recruitment status and locations
  • Sort and filter, and open the record on clinicaltrials.gov
  • All somatic worksets, with CNV trial matching in SomaCGP
The Clinical Trials tab, with phase, therapies, indications and recruitment status
Somatic

AMP tier and clinical evidence

Stop retyping the evidence

The AMP tier reads the same across all three somatic viewers, and the evidence behind a variant goes into its description in one click.

  • Cancer-type-aware evidence matching and tiering
  • Filter the variant list by tier
  • “Add to Variant Description” builds the heading for you, and appends rather than replaces or duplicates
Therapies matched by cancer type, with the AMP tier column highlighted
Somatic

CNV evidence in the Large Variant Viewer

Large variants, small-variant depth

SomaCGP CNVs now carry the same clinical evidence as short variants, in the same place.

  • AMP tier and JaxCKB Clinical Evidences columns and filters
  • Evidence organized into actionable, prognostic and diagnostic, plus clinical trials
  • Gene-panel matches highlighted in the Genes column
Auto Actionability in the Large Variant Viewer, with the tier column on each CNV
Somatic

Cancer frequency (COSMIC)

Somatic context, in the platform

COSMIC frequency data now appears on the variant page, so you can judge a variant's somatic significance without leaving the analysis.

  • Frequency summary, tier, and the gene's role in cancer
  • Tissue distribution chart, ranked by observations
  • Searchable observation table, filterable and sortable, with PubMed links
  • Available for analyses processed with COSMIC v103 or above
COSMIC cancer frequency: observation summary and tissue distribution

Lab workflows,taken further.

Statuses, comments and case details kept where everyone can see them, with panels, presets and report sections that follow your lab's practice.

Nothing in this part is specific to .

Platform

Comments & collaboration

Discuss every case, right where you work

Raise a question on a variant, bring in a colleague, and close the loop once it’s settled, without leaving the analysis or switching tools.

  • Threaded replies, @mentions, and resolve
  • Anchored to the case or to a specific variant, from every viewer
  • Filter by open or resolved, case or variant
A comment thread anchored on a variant, with a reply and a mention
Platform

Analysis workflow

Your caseload, at a glance

The analysis list now shows what matters in one place, so you can spot the cases that need you and act on them.

  • Clearer statuses showing exactly where your case stands, at all times
  • One-click and bulk assignment from the list
  • Sort by any key column, saved across projects
  • Cmd/Ctrl+K to jump to any analysis from the search
The analysis list, with the revised status column highlighted
Platform

Custom metadata

Your own columns, in a few clicks

Add your own columns to the analysis list to track the case details your lab cares about. Setting them up now takes one short form, opened right from the list.

  • Name a column and set its values in one go
  • Delete any metadata you no longer need
  • Existing metadata carried over automatically
The Manage meta-data column dialog, with values for each custom column
Platform

Filter preset management

Consistent filters, or full flexibility

Give your team the consistency of locked presets, or the flexibility of free filtering, whichever the project needs.

  • Locked presets for standardized workflows: enforce specific presets and block filter edits
  • Free filtering when flexibility matters
Free filtering versus locked presets in project settings
Platform

Restricted panels

Set the scope, adjust it on the fly

Set the right scope from the start, and adjust it without restarting your workflow.

  • Simplified, clearer application of restricted panels at analysis setup
  • Add or remove genes from your selected panels on the fly
  • Evaluated genes auto-populate in the clinical report
Evaluated genes in the clinical report, auto-populated from the restricted panels
Platform

Clinical report

Easier to build, easier to read

Shape the report around your lab's practice, with a form that's quicker to move through.

  • Navigate your report with a side table of contents
  • Summary & Recommendations can now be pre-populated in your templates
  • Bullet points and numbered lists in any free-text field
  • CNVs reported by gene or region, plus custom diseases
  • Latvian added, Finnish improved
  • Hemizygous CNVs and SVs labeled as such
The report editor, with the Aura theme and metadata fields
Platform

QC tab

Clearer, easier to read and export

We reworked the QC tab to make it clearer, and easier to read, understand and export. It now tells you what failed, on which sample and by how much, and the report prints and exports the way your lab needs it.

  • QC warnings that name the check, the sample and the gap to the pass threshold
  • Every check of every sample on a gauge, with the QC profile thresholds on hover
  • Export QC: the analysis QC metrics as a TSV, one column per sample
  • Print report: an A4 document with a header, page numbers and nothing cropped
The QC tab: QC warnings per sample, Cov. 30X on a gauge per sample with its thresholds, Export QC as TSV and the printed A4 report

API & Automation,built to connect.

Faster file transfers, a cleaner export for your LIMS, and more of the platform available to your own systems through the public API.

Nothing in this part is specific to .

Platform

Direct S3 upload and download

Large files, moved faster

Uploads and downloads in the platform now go straight to and from storage, instead of through an intermediate file server, so large files move faster and more reliably, even with many users at once.

  • Direct transfers with short-lived, scoped credentials, sent in parallel parts
  • Large downloads stream straight to disk in Chrome, Firefox and Edge
  • Automatic fallback to the previous path wherever direct transfer isn't available
The Download and upload panel, with two transfers in progress
Platform

JSON export v2

A data model your LIMS can read

The JSON export now delivers one self-describing record per variant, so LIMS integrators no longer have to reverse-engineer cryptic keys and number-coded values.

  • Clear field names and full values, such as VUS or Pathogenic, instead of codes
  • ClinVar, COSMIC, OMIM and gnomAD data grouped by source, with summary statistics
  • Versioned on the same endpoint, so existing integrations keep working until they switch
A variant record in the v2 JSON export
Platform

Bulk VKB import

Bring your knowledge base with you

Labs moving from another platform, or running their own automation, can import their pre-classified variants in bulk through the public API, without going through Customer Care.

  • One import endpoint with a defined format
  • No need to attach each entry to an analysis
Platform

Public API coverage

More of the platform, through the API

More of what you do in the interface is now available to your LIMS and scripts, with 10 new public API endpoints.

  • Apply restricted gene panels to analyses
  • Assign users to analyses and read assignments
  • Assign protocols to analyses and set a project's default protocol
  • Check the running platform version

Read the public API documentation

Freshest clinical databases,best decisions.

All major clinical databases updated to their latest releases, with an up-to-date Disease Ontology to better link evidence to the patient's cancer.

  • ClinVar2026-10
  • OMIM2026-10
  • JaxCKB2026-10
  • Disease Ontology2026-10
  • COSMICv103
  • VEPv116.2
  • MANEv1.5
80+FeaturesShipped across three preview cycles, from RC1 in June to RCFinal in September.
1New moduleSeqOne PGx, out of preview and into production.
20WorksetsEvery IVD workset validated for this release.
IVDFrom day 1No feature ships ahead of its IVD validation.

Quality and your feedback,built into every release.

Every release carries work that doesn't make a headline: steadier workflows, smoother details, and changes that come straight from your feedback.

250+Quality improvements shipped
85Straight from your feedback

Improvements, area by area

  • Clinical reportingSmoother report generation, export and editing, plus templates and branding that behave as set.
  • PermissionsPermission settings that apply exactly as configured, for the right users.
  • Accounts, admin & sign-inSimpler user creation, admin roles and sign-in.
  • Variant filters & presetsFilters and presets that hold, including HPO and transmission filters.
  • Selection & classificationA steadier Selection, classification drawer and VKB modal.
  • Variant Viewer & AMP tiersCleaner layout, scrolling, shortcuts and TSV export in both viewers, and clearer AMP tier display.
  • Activity logA more comprehensive, reliable activity log.
  • Projects, samples & metadataSmoother project setup, sample upload and metadata management.
  • Gene lists, panels & settingsEasier gene list import and alias handling, and tidier panel, transcript and entity settings.
  • API, SDK & back endSturdier behavior under the hood, with no change to how you work.
  • Allele frequenciesgnomAD frequencies shown as percentages, easier to read.
  • Genome browserTracks stay loaded as you move between views.
  • Text editingOne rich-text editor across comment and description fields.
  • Variant detailsIntergenic variants display correctly in the drawer and full-screen page.
  • Empty listsAn empty Variant Viewer list now says why, instead of always pointing at the filters.
  • DiagAI AutofillNo stray HTML, no switch to English mid-comment, and available on the US, Canada and Australia platforms.
  • Genome AlertAn automated limit that blocked the Genome Alert report was removed.

IVD worksets,Fall 2026.

All workset versions shipping with the Fall 2026 Release are IVD and fully validated.

  • Production-ready: every workset is IVD and fully validated before it reaches your environment.
  • 12-month availability guaranteed: each workset version stays available on the Main environment for at least 12 months.
  • Seamless transition: Preview environments let you test upcoming workset versions before you move to them in production.
IVD workset versions for the Fall 2026 release
WorksetLegacy IVD versionNew IVD version
Germline
CNV Capture2.62.6
CNV Exome2.22.3
GermlineVar2.62.7
GermlineFamily2.62.7
GermlineVar LR1.21.2
GermVar3.123.15
GermVar Family3.123.15
GermVar Tertiary1.161.19
GermVar Tertiary Family1.141.17
Somatic
SomaCGP1.61.9
SomaCNVcapture2.42.5
SomaHemato0.60.8
SomaHRD1.52.1
SomaLBx0.70.10
SomaMethyl0.30.3
SomaMSI1.11.2
SomaRNA3.33.5
SomaVar2.92.11
SomaVar LF2.12.1
SomaVar Tertiary2.42.6
ISO 27001ISO 13485HIPAACE-IVD Class CGDPRHDSC5 Compliance

The SeqOne Platform is an in vitro diagnostic medical device, CE-IVD Class C certified under IVDR. The company is certified under ISO 13485 for medical device manufacturer, and under ISO 27001 and HDS for information security and health data hosting. All certificates are available at trust.seqone.com.

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