FOR Researchers

Explore with confidence. Traceable at every step.

Long-read native interpretation for rare disease and hereditary cancer. No Black-Box AI, but deterministic machine learning. Investigate on individual patient or cohort level.

Lucid Genomics cohort analysis view showing a gene results list beside a Regulome track with topological domains, enhancers and structural variants for PITX2

the solution

The Cases You Sign Out.

From PacBio HiFi and Oxford Nanopore raw reads to actionable insights. Variant calling, prioritization, interpretation, and reporting - end to end, on one system.

Phenotype-based Prioritization

Focus on the most relevant variants

Phenotype-driven variant prioritization ranks candidate variants against the patient's clinical presentation, surfacing the most likely causal variants first. Enter HPO terms and Lucid weighs each variant by gene-phenotype association.

Lucid Genomics cohort variant table showing structural variant types, cohort allele counts and frequencies

Non-Coding

Go beyond what is known today

Analyze the non-coding genome directly — regulatory variants, deep-intronic changes, and structural rearrangements that disrupt enhancers and topologically associating domains (TADs).

Advanced filters

Adjust filters

Advanced filtering lets you combine criteria — allele frequency, inheritance pattern, variant type, ACMG class, gene panels, and more — to narrow candidates to exactly the set you want to review.

Lucid Genomics filter panel with sample, chromosome and genomic coordinate range controls

Cohort Analysis

Analysis across your cohort

Run population studies, rare-disease cohorts, or your whole backlog through one harmonized pipeline — then query across all of it, surface recurrent and candidate-pathogenic variants, and compute allele frequencies in your own population.

Analysis across your cohort Image

Circos Plots

Identify translocations

Map the entire genome in a circular layout, with arcs connecting distant loci to reveal translocations and other inter-chromosomal rearrangements at a glance. Trace structural connections across chromosomes - fusions, balanced translocations, and complex rearrangements.

Circos-style chromosome plot showing a structural rearrangement linking chromosomes 17 and X

Coverage Plots

Conduct quick genome-wide checks

Coverage plots display chromosome-specific read depth, making large structural variants immediately visible. Scan the genome at a glance - similar to karyotyping - to spot deletions, duplications, and other large-scale events before drilling into the detailed variant view.

Lucid Genomics methylation plot comparing sample and control signal across a genomic region

Methlyation

Differentially methylated regions

Lucid surfaces clinically relevant methylation alongside genetic variants from the same data: imprinting disorders, repeat-expansion methylation, and allele-specific patterns that explain cases genetics alone leaves open.

Differentially methylated regions Image

Complex Structural Variants

Identify and visualize structural variants

Invetigate structural variants short-read misses. Large deletions, duplications, inversions, and complex rearrangements are where short-read pipelines lose sensitivity — and where many unsolved cases hide. Lucid resolves them natively at base-pair precision, detecting and prioritizing candidate-pathogenic SVs.

Lucid Genomics Regulome track view showing topological domains, enhancers, genes and a structural variant

the solution

The Cases You Sign Out.

From PacBio HiFi and Oxford Nanopore raw reads to actionable insights. Variant calling, prioritization, interpretation, and reporting - end to end, on one system.

Available now

Lift diagnostic yield on the cases short-read pipelines leave unsolved

read tertiary analysis that resolves variants — structural, repeat, non-coding — that conventional WES/WGS misses.

All variant types

SNV, indels, SV, tandem-repeat expansions, methylation — one workflow, one report.

Haplotype phasing

Read-backed phasing resolves compound heterozygosity and parent-of-origin.

Trio & family analysis

Joint index/mother/father interpretation with de novo and inheritance models.

Hard-to-map regions

SMN1/2, IGHV, MHC, GBA and other medically critical loci.

Non-coding & repeats

Dark-genome and repeat-expansion interpretation invisible to short-read WGS.

HPO prioritization

Phenotype-driven ranking against ClinVar, OMIM, HGMD with ACMG/AMP classification.

Resolve the pharmacogenes short-read can't

Long reads resolve CYP2D6 structural complexity and hybrid alleles, then map results straight to dosing guidance.

Core actionable genes

BRCA1/2, PALB2, PMS2, MLH1, MSH2, MSH6, EPCAM, ATM, CHEK2, TP53, and more.

Star-allele & diplotype

Phased star-allele and diplotype calling with metabolizer-status assignment.

CYP2D6 CNV & hybrids

Resolves copy-number, gene conversions, and CYP2D6/2D7 hybrids short-read misses.

Guideline mapping

CPIC and DPWG dosing recommendations surfaced per gene-drug pair.

Actionable reporting

Clinician-ready dosing flags; Custom-Reports, single-click sign-off.

Regional allele context

Local population allele frequencies where available

Resolve the genes short-read panels get wrong

Long reads phase and fully resolve the pseudogene-homologous and structurally complex hereditary cancer genes that short-read panels routinely miscall.

Core actionable genes

BRCA1/2, PALB2, PMS2, MLH1, MSH2, MSH6, EPCAM, ATM, CHEK2, TP53, and more.

Pseudogene resolution

Native long-read disambiguation of PMS2/PMS2CL and other pseudogene-confounded loci.

Large rearrangements & CNVs

Exon-level deletions/duplications resolved directly from long reads, no MLPA reflex needed.

Deep-intronic & splice variants

Non-coding and splice-region variants invisible to exon-focused short-read panels.

Guideline mapping

ACMG/AMP classification aligned to ACMG SF v3.2 secondary findings and NCCN actionability.

Cascade-testing ready

Pathogenic/likely-pathogenic reporting structured to support family cascade testing.

the solution

Secondary and Tertiary Analysis.

Lucid’s modular architecture lets you enter the pipeline at any stage - raw reads (FASTQ), aligned data (BAM), or called variants (VCF).

01
Variant Calling.
From FASTQ or BAM.
02
Prioritization.
Evidence-based Interpretation.
03
Customized reporting.
Tailored to your workflow.
04
Variant sharing with team and other researchers

Competitor Analysis

Why Researchers Choose Lucid Genomics

For patient cases where exome and short-read WGS came back negative, Lucid leverages long-read sequencing to recover the SVs, repeat expansions, and complex rearrangements that drive diagnostic yield in unsolved cases.

Lucid Genomics Platform

Standard Platforms

Data formats

VCF, FASTQ or BAM

VCF, FASTQ or BAM

Genome scope

Coding & non-coding

Variant scope

Q3 2026

Multi-omics integration

Yes (e.g. index LR + parental SR WES)

Mixed Technology analysis

RNA-seq, Methyl., Epigenetics & Hi-C

HPO variant matcher

SNVs, SVs & tandem repeats

3D genome architecture (TADs)

Yes

Yes

Yes

Yes

Yes

Yes

Yes

Yes

ACMG Guidelines

Yes

Coding (2%)

Some

SNVs

Some

Some

No

No

No

No

No

No

No

No

No

No

Fast IGV-like visualization

Cohort analysis

Advanced CMRG analysis

Phased compound heterozygosity

Differentially methylated regions

Detailed SV analysis incl. regulatory elements

Coverage and Circos plots

Custom feature request

Long-read Specific

Yes

Validation

What customers say.

Lucid is a spin-off of the Max Planck Institute for Molecular Genetics and Charité Berlin, built on the science of the Mundlos lab, one of Europe's leading rare-disease genomics groups.

Lucid Genomics' cohort analysis tool has been a game changer for our research. It’s intuitive yet powerful, allowing us to quickly compare patient groups and uncover key insights. The platform has streamlined our workflow and enabled faster, data-driven decisions.

Dr. Felix Boschann,

Medical Geneticist, Charité

Lucid cracked 30-year-old unsolved cases — revealing hidden variants and redefining how we see the genome. Simply one of the best tools to unlock the Dark Genome.

Prof. Pawel Stankiewicz,

M.D., Department of Molecular & Human Genetics at Baylor College of Medicine

Lucid integrates AI-driven algorithms allowing our team to quickly identify genetic variants and actionable insights with incredible precision. The intuitive interface and seamless collaboration tools have transformed how we analyze and share insights across teams.

Dr. Marco Saverese,

Principal Investigator, Folkhalsan Research Center

FIND YOUR SOLUTION

Cut through the noise.
Get to the answer.

Whether you're making diagnostic decisions or pushing the boundaries of discovery, Lucid meets you where the data gets complex.

Request demo

Frequently Asked Questions

Is my data secure and GDPR-compliant?

Yes. Lucid runs on a GDPR-compliant AWS server in Frankfurt and adheres to the highest data privacy and security standards.

Is Lucid IVDR-certified?

We are currently preparing our IVDR submission and working closely with the relevant regulatory bodies throughout the process.

Can CLIA labs use Lucid?

Yes. Lucid supports your validation study to bring the platform onto your LDT (laboratory-developed test) program.

Do you support on-premise deployment?

Yes, on-premise deployment is possible. The specific requirements are discussed directly with our technical team to fit your infrastructure.

Does Lucid support long-read whole genome sequencing?

Yes. Lucid is purpose-built for long-read WGS analysis, covering SNVs, structural variants, repeat expansions, methylation, non-coding variants, and HPO-based prioritization.

Does Lucid support short-read genome sequencing?

Yes. Lucid supports short-read sequencing in addition to long-read WGS — and you can run mixed family analyses that combine short- and long-read data within the same case.

How do I get started?

We begin with a short intro call to understand your priorities, including a tailored demo and Q&A. From there, we offer a free trial where you can test the platform using public samples or your own in-house samples. Once you've seen it in action, we plan Phase 2: rolling Lucid into your workflow.