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PhD-Level Analysis
Bespoke genomic analysis Understand your genome.
Already have raw genomic data? Upload your files to receive a manually reviewed, research-grade report covering rare and novel variants, as well as key traits.
Our analysis integrates a wide range of genomic databases with expert interpretation by a PhD-trained scientist. The result is a focused, in-depth report designed to go beyond standard genomic interpretation services, delivering insights into what makes you unique, including variants not always captured in public databases.
Limited to common traits
23andMe & Microarray
Analyze your 23andMe, AncestryDNA, MyHeritage DNA, Living DNA, or other microarray-based tests for well-studied genetic markers.
Note: Microarray technology captures a predefined set of common genetic variants and is primarily designed for ancestry and selected trait analysis. It does not detect most rare or novel variants and is not suitable for comprehensive genomic investigations.
Personalised common trait report
Wellness & nutrition markers
Carrier status (limited panel)
Includes a 20 min consultation
✗ No novel/rare variant detection
$299$149🚀 Launch offer
🔥 Most popular — full genomic power
Personal Genome Analysis (WGS / WES)
Whole Genome or Exome sequencing analysis. Expert rare variant discovery, novel variant detection, and deep dive into your unique genetic landscape. Analyse your raw genomic data from providers such as Nebula Genomics, Dante Labs, Sequencing.com, Veritas Genetics, TellmeGen, and others.
Rare & novel variant discovery (WGS/WES)
20+ variant effect prediction models
Multi-database integration
Protein-level functional annotation
Manual PhD-level expert review
Tailored research focus analysis
Includes a 30 min consultation
$1,499$699🔥 Launch offer
❤️ Family & trio analysis
Trio or Carrier couple (WGS / WES)
Research interpretation of 2–3 genomes (parents + child, or partners). Explore de novo mutations, carrier-associated genotypes, and inherited variants. Only available with Whole Genome (WGS) or Exome sequencing (WES) data.
2–3 genome family analysis
De novo mutation discovery
Carrier-associated genotype comparison
Inheritance pattern analysis
Family-level interpretation
Rare variant prioritisation
Manual PhD-level expert review
Includes up to 1 hour consultation
$2,699$1,249🏷️ Launch offer
🔒 Secure upload · All analyses include PhD-level manual review · Reports for research & educational use only
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Why Choose Genetase
Beyond Basic Analysis
Most services rely on simple ClinVar matching or single-database annotations. Genetase does much more.
Multiple Database Integration
gnomAD, ClinVar, dbSNP, 15+ missense predictors, reMM, phylop100, Pangolin and much more — not just one source.
Novel Variant Detection
Genetase highlights potentially novel genetic variants rarely captured in public reference datasets, revealing deeper layers of individual genomic uniqueness.
PhD-Level Manual Review
Each report is hand-reviewed by a PhD-trained scientist. This ensures genomic data are turned into clear, evidence-based insights that are accessible and understandable to non-specialists.
Custom Focus Areas
In addition to comprehensive rare variant discovery, you can focus on what matters most to you — for example, lipid metabolism, cancer-related pathways, neurodevelopmental pathways, pharmacogenomic markers, or lactose metabolism, among others.
Your Report Includes
Everything you need to explore your genome
Comprehensive rare variant discovery — analysis of rare variants across your genome
Variant association review — variants reported in association with known conditions (research context)
Consultation included — for any follow-up questions
Advanced Analysis Options
Carrier Screening & Trio Analysis
In addition to single-sample genomic data analysis, we also offer carrier-focused comparative analysis and trio-based analysis when genetic data from both biological parents is available.
These approaches are intended for research and educational purposes only. They enable comparative analysis of genetic variants to better understand inheritance patterns, including distinguishing de novo mutations (sporadic errors) from variants inherited from parents. This supports research into rare genetic variation, inheritance, and human biology.
Carrier analysis: compares genomic data from partners or prospective parents to explore shared and unique variants relevant to recessive inheritance patterns.
Trio analysis: analyses a child's genome together with both biological parents to investigate inheritance patterns and identify candidate de novo variants.
If you have questions about this type of advanced analysis, please contact us at .
Not sure yet? View an example
Example Research Report
A real example showing how a VCF file from WGS is analyzed to identify notable variants using a comprehensive, multi-evidence pipeline — covering rare and novel changes in ways current consumer genomics services do not. Each report is highly personalized based on the client’s interests and stated level of technical expertise.
This example is provided for illustrative purposes only. The exact content, layout, and visual style of reports may vary.
Genes can be thought of as instructions in your body that help guide how you grow, develop, and function. A variant is a change in DNA. Some variants have no known effect, others have been associated with differences in traits or biological processes, and many are neutral. There are also regulatory variants, which do not change the gene itself but may influence when, where, and how much a gene is expressed. These are still not fully understood, and their effects can be difficult to predict, yet they play an important role in shaping gene activity and biological variation.
Report Summary
This report highlights several rare genetic variants, including findings in the MYH3 and LPL genes.
A novel variant in MYH3, not previously reported in the literature or available population databases, was identified. Multiple computational prediction tools suggest a potential effect on protein function. Variants in MYH3 have been reported in association with several autosomal dominant developmental disorders affecting muscle and joint formation, including distal arthrogryposis syndromes. Published reports describe a spectrum of clinical features, including congenital foot deformities, joint contractures, and limb abnormalities, with considerable variability in presentation between affected individuals. This specific variant finding is not diagnostic and requires clinical correlation for any interpretation. Computational predictions are supportive but not sufficient to determine pathogenicity.
Another finding is a rare variant in the LPL gene, which is involved in lipid metabolism. Variants in this gene have been reported in population studies in association with variation in triglyceride levels, a lipid biomarker commonly studied in cardiovascular research. This variant has been reported in the ClinVar database with a likely pathogenic classification; however, such classifications represent submitted evidence at the time of curation and may change as additional data becomes available. ClinVar annotations should be interpreted as reference information only and not as a clinical diagnosis.
Other identified variants (including in genes related to immune function, neurodevelopment, and red blood cell metabolism) remain of uncertain significance, even though computational evidence indicates that they could affect gene function. This is common in genetic testing and does not necessarily mean there is a health problem. In many cases, findings like these are part of normal human genetic variation. Where relevant clinical or biological information is available, these findings may be considered alongside other evidence in research or clinical evaluation by appropriately qualified professionals.
Research focus: MYH3 variant
A novel heterozygous missense variant was identified in the MYH3 gene at position chr17:10640165, where a thymine (T) is replaced by guanine (G). Novel indicates that this variant has not been previously reported in the queried public databases at the time of analysis. Heterozygous means that one copy of the gene is affected, while the other copy remains normal.
This nucleotide change results in a protein-level alteration: p.Lys838Thr, where lysine (positively charged) is replaced by threonine (polar, uncharged). This represents a missense variant, meaning a single amino acid in the protein sequence is changed. Amino acids are the building blocks that make up proteins, and even small changes can sometimes affect how a protein works.
The variant occurs within the neck domain of the MYH3 protein, a region involved in force transmission during muscle contraction. Changes in this domain may influence how mechanical force is propagated within muscle fibers. Because MYH3 is involved in early embryonic skeletal muscle development, alterations in this region have been hypothesized to influence limb positioning and musculoskeletal development during early development (PMID: 26180627).
The MYH3 gene has been reported in the literature in association with arthrogryposis and related congenital contracture phenotypes. These conditions demonstrate variable expressivity, ranging from isolated joint involvement to more generalized limb abnormalities (GeneReviews).
Joint contractures describe stiffness or reduced movement in one or more joints that is present from early development. This may include features such as foot deformities (including clubfoot) or reduced mobility of the hands and fingers.
A different variant (rs2074256645) affecting the same amino acid position (p.Lys838Gln) has been classified as likely pathogenic in ClinVar database, suggesting that this amino acid position may be important for protein function. Note that database classifications are not equivalent to a clinical diagnosis and may change as new evidence becomes available.
This amino acid position (p.838) is predicted evolutionarily conserved across multiple species (PhyloP100: 8.014). Computational prediction tools also indicate that the novel p.Lys838Thr variant could affect protein function, with 15 of 19 algorithms predicting a potentially deleterious effect and 4 of 19 predicting a possible moderate effect. However, computational predictions have important limitations and should not be used in isolation to infer pathogenicity, disease risk, or clinical significance.
Some MYH3 missense variants are thought to act via dominant inheritance, meaning that a change in a single copy of the gene may be sufficient to have an effect, through gain-of-function mechanisms where the protein may become overactive or function in an altered way (PMID: 16642020). However, no functional studies (laboratory experiments that test how a genetic change affects protein behavior) have yet confirmed the specific effect of this novel variant (p.Lys838Thr). The possibility of a dominant mechanism cannot be excluded; however, the effect of this specific variant remains unknown.
Summary: This novel MYH3 variant occurs in a conserved region of the protein involved in muscle force transmission. Other variants in this region have been reported in the literature in individuals with congenital contracture disorders, which represent a spectrum of variable clinical findings and may include limb positioning differences such as clubfoot in some cases (PMID: 16642020). Multiple lines of computational and comparative evidence suggest a possible functional impact; however, computational and comparative evidence alone cannot determine pathogenicity or predict clinical outcomes and the clinical significance of this specific variant is currently unconfirmed and requires additional functional or segregation evidence to clarify its significance.
Rare variant observations (research context)
A novel heterozygous missense (p.Lys838Thr) variant (chr17:10640165-T>G) with computationally predicted functional impact was identified in the MYH3 gene. This gene has been reported in the literature in association with arthrogryposis and related congenital contracture phenotypes, which may include features such as clubfoot. For full research context see sections above.
A novel heterozygous missense (p.Val717Phe) variant (chr11:70502844-C>A) with computationally predicted functional impact was found in the SHANK2 gene. This gene has been reported in the literature in association with neurodevelopmental phenotypes, based primarily on rare loss-of-function variants (PMID: 36450866). Reported effects are variable, and interpretation depends on broader genetic and clinical context. The missense variant identified here is of a different class and its significance is uncertain. No inference about neurodevelopmental status should be drawn from this finding
A rare heterozygous variant (rs775728208) was found in the LPL gene. Variants in this gene have been reported in population studies in association with differences in lipid metabolism, including variation in triglyceride levels, in heterozygous carriers (PMID: 27055971). This variant has been submitted to the ClinVar database with a likely pathogenic classification and is predicted in computational studies to potentially affect gene function (research context). In reported cases, such changes may be associated with higher circulating triglyceride levels, typically mild to moderate in heterozygous individuals. These findings are based on population and case studies, and the effect of any single variant can vary depending on additional genetic and environmental factors.
A rare heterozygous missense (p.Thr447Met) variant (rs376889814) with predicted protein impact was found in the WDR26 gene. This gene has been reported in the literature in relation to WDR26-related neurodevelopmental disorders, including Skraban–Deardorff syndrome, a rare autosomal dominant condition with variable reported features such as developmental delay, speech differences, and other neurodevelopmental findings including seizures or autism spectrum traits in some individuals (PMID: 33506510 ). Reported cases are most often due to de novo loss-of-function variants, and the severity of clinical features can vary widely. While this missense variant is predicted to have a functional impact by computational tools, its significance remains uncertain and should be interpreted cautiously.
A novel heterozygous splice acceptor variant (chr1:7842671-G>A) was found in the PER3 gene affecting the last exon. This gene is involved in circadian rhythm regulation and has been studied in the literature in relation to variation in sleep–wake timing and chronotype, although evidence for strong or deterministic effects is limited.
A rare heterozygous missense variant (rs764202764) with protein impact prediction was found in the CSF3R gene. This variant has been reported in the literature in individuals with severe congenital neutropenia (PMID: 10449521) and is listed in the ClinVar database where it is currently classified as a Variant of Uncertain Significance (VUS). The clinical significance of this variant remains uncertain. Note: neutropenia refers to reduced neutrophil counts; neutrophils are a type of white blood cell.
A rare heterozygous missense (p.Met207Thr) variant (rs1433928824) with protein impact prediction was found in the G6PD gene. Variants in G6PD have been associated with G6PD deficiency, an X-linked condition that in some contexts can be linked to reduced red blood cell stability under certain physiological or environmental triggers such as infections, medications, or dietary factors (e.g., fava beans) (GeneReviews). In males, who have only one copy of the X chromosome, changes in this gene may be more likely to have functional impact; however, the significance of this variant remains uncertain.
Other traits
Lactose Intolerance (Ability to Digest Lactose in Adulthood)
Lactose is a sugar found in milk and dairy products. To digest it, the body produces an enzyme called lactase, encoded by the LCT gene. In many people, lactase production decreases after childhood, which can lead to lactose intolerance (difficulty digesting dairy).
Genetic studies have identified several well-known variants in a nearby gene, MCM6, that control whether the LCT gene continues producing lactase in adulthood. These variants are located in a regulatory region (often called a lactase enhancer) within intron 13 of the MCM6 gene.
Result for this sample
No known genetic variants associated with lactase persistence (the ability to digest lactose in adulthood) were detected in this sample. Based on current genetic knowledge, this suggests absence of known variants associated with continued lactase production in adulthood. This is associated, at a population level, with a higher likelihood of lactose intolerance, although individual tolerance varies widely and is influenced by dietary and physiological factors.
Important note: Genetic results estimate predisposition, not certainty. Some people without lactase-persistence variants can still tolerate small amounts of dairy, while others may experience symptoms. Diet, gut microbiome, and other factors can also influence lactose tolerance.
Eye, Hair, and Skin Color
This section summarizes well-studied genetic variants associated with pigmentation traits in human populations. These variants contribute to natural variation in eye, hair, and skin color, but do not determine traits on their own. All predictions are probabilistic and should be interpreted with appropriate caution due to the polygenic nature of these traits.
Eyes: Genetic data suggest brown eyes (rs12913832 AA), with potential variation toward intermediate shades (such as hazel or light brown) influenced by minor modifying variants.
Skin: Genetic markers suggest light to light-intermediate skin pigmentation, primarily due to rs1426654 AA in SLC24A5, with additional lightening from rs16891982 heterozygous (CG) in SLC45A2 and heterozygous TYR variants (rs1042602, rs1126809), while ancestral alleles at IRF4 and HERC2/OCA2 loci indicate pigmentation likely not at the extremely pale end and with moderate tanning ability (probabilistic prediction only).
Hair: With MC1R fully ancestral (no red-hair variants), rs12203592 (IRF4) ancestral, and rs12821256 (KITLG) ancestral, there is no strong genetic signal for red or very light/blond hair, while heterozygous TYRP1 (rs1408799) and ASIP (rs4911414) suggest a moderate shift toward lighter brown tones, and rs7349332 (WNT10A) heterozygosity may slightly favor wavy rather than straight hair, overall consistent with dark brown to medium brown hair with possible subtle light-brown undertones and mildly wavy texture. Reference rs6152 GG genotype has been associated in studies with higher likelihood of male pattern baldness (PMID: 24665929).
Blood Type & Secretor Status
This analysis is provided for informational purposes only and is not intended for clinical or medical use, including blood typing or transfusion-related decisions. Computational evidence has profound limitations and should never be used for any clinical decisions.
Genetic markers indicate a predicted A+ blood type, with an AO genotype inferred by the presence of a heterozygous rs8176719 variant and RHD-presence variants. Heterozygous rs601338 GA indicates a common secretor phenotype (~70–80% of Europeans) in which ABO antigens (consistent with a predicted A+ blood type) are expressed in bodily fluids like saliva, with modest disputed biological relevance to gut microbiome and infection susceptibility (e.g., norovirus binding differences) and forensic significance because ABO type can potentially be determined from non-blood samples such as saliva or residue on objects.
Haplogroup
Mitochondrial analysis indicates the sample is consistent with U7a3a, a rare subclade of Haplogroup U7 within the broader Haplogroup U lineage. U7a3a represents a more recent branch of the U7 maternal lineage and has been observed at low frequencies primarily in populations from the Near East, Iran, Central Asia, and parts of South Asia. As mitochondrial DNA is inherited exclusively through the maternal line, this haplogroup reflects the individual’s direct maternal ancestry and its connection to ancient population movements across these regions. Y-chromosome analysis places the sample in haplogroup Q, specifically Q-Y45524, representing a deep paternal lineage within an ancient Eurasian branch of human ancestry. Haplogroup Q is widely associated with early populations of northern Eurasia and later migrations into Siberia and the Americas, reflecting a very old and widespread paternal origin.
Other common findings
Several variants in this dataset have been reported in population studies in association with differences in biological processes, including slow caffeine metabolism (rs762551 CC), typical caffeine sensitivity (rs1801274 GG), balanced power–endurance muscle profile (rs1815739 CT), intermediate stress resilience (rs4680 GA), moderate cilantro sensitivity (rs72921001 CA), and standard alcohol metabolism without strong flushing risk (rs1229984 CC), alongside an intermediate social oxytocin response (rs53576 AG). In addition, a common APOE-related variant (rs429358 TC) was present in the raw data. When considered alongside rs7412 CC, this suggests a predicted APOE ε3/ε4 genotype in population reference datasets. In population studies, the APOE ε3/ε4 genotype has been associated with differences in the statistical distribution of late-onset Alzheimer’s disease compared with ε3/ε3 groups. These findings reflect aggregated population-level associations reported in the scientific literature and do not imply deterministic or individual-level risk prediction. Estimates vary across studies, and effects are influenced by multiple genetic, environmental, and lifestyle factors. This finding is included here for research and educational purposes only and is inherently uncertain and must not be used to infer personal risk.
Important: Research and educational use only. This report is not clinically validated and is not intended for diagnosis, treatment, disease prediction, or medical decision-making. Findings are derived from computational analyses, database annotations, and published scientific literature and may be incomplete, uncertain, or subject to interpretation. Any potentially medically relevant findings should be independently confirmed through testing performed by an accredited clinical laboratory and interpreted by a qualified healthcare professional. Where VCF data originate from direct-to-consumer (DTC) genomic outputs, results may not be generated using clinically validated pipelines and may therefore differ from clinically confirmed genotyping. In such cases, outputs should be interpreted as reported or inferred variant calls rather than a clinical diagnosis.
Common Questions
Everything you need to know
What kind of data do I need?
You need Whole Genome Sequencing (WGS) or Whole Exome Sequencing (WES) data. Supported file formats include .vcf.gz and .vcf.bgz. Most commercial sequencing providers—such as Nebula Genomics, Dante Labs, sequencing.com, Veritas Genetics, and TellmeGen—allow users to download their raw VCF data. In addition, we analyse microarray data from popular ancestry services, including 23andMe, AncestryDNA, MyHeritage DNA, and Living DNA.
If you need help understanding what to download or how to get your genome sequenced, please get in touch: .
How long does it take?
Turnaround time typically ranges from a few days up to approximately 10 working days, depending on the product selected and the complexity of the case. Each report is highly personalised and reviewed manually, with quality and scientific depth prioritised throughout. Delivery times are estimates and may vary depending on demand and workload.
What makes your report different from other services?
Most services rely primarily on simple trait associations (GWAS) and ClinVar annotations. In contrast, each report here includes manual review of key variants, integration of multiple genomic databases, and assessment of rare or novel variants that may not be well represented in public resources.
Users also have the option to communicate directly with a PhD-level scientist for clarification and deeper understanding of their results.
Is this clinical or diagnostic?
No. This is provided for research and informational purposes only and is not a clinical or diagnostic service.
The analysis uses multi-step variant annotation and interpretation methods, integrating multiple genomic databases.
While the results are intended to be scientifically grounded, they are not a substitute for a licensed medical diagnosis. For any medical interpretation or decision-making, a qualified healthcare professional should be consulted.
What if I want to ask questions after receiving my report?
Your package includes dedicated consultation time, allowing you to ask questions and gain a deeper understanding of your report.
Is my data secure?
Absolutely. Files are encrypted during transfer and stored securely. Your genetic data is deleted once analysis is complete, unless you choose to participate in research. In that case, your data will be de-identified and securely stored for research purposes. We comply with UK GDPR requirements and are registered with the ICO.
Have questions before ordering?
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