Use your HSA or FSA fundsWhole Genome Sequencing is now HSA/FSA eligible

Evidence

Publications

The papers, talks and articles that reference Dante Labs — each with a summary and an account of our part in the work.

CLIA Certified CAP Accredited ISO 15189 Medical Lab ACMG Classified HIPAA & GDPR 100,000+ Genomes Sequenced

Peer-reviewed · Clinical Case Reports · 2026
Unveiling New Insights: Reinterpreting DES Mutation, p.Arg383His, Through a Study of an Iranian Family With Isolated Hypertrophic Cardiomyopathy, Implication for Phenotype–Genotype Correlation Analysis
This study examined an Iranian family with severe hypertrophic cardiomyopathy and, using whole genome sequencing, identified a likely disease-causing p.Arg383His variant in the DES gene. A review of 119 reported DES missense variants found only limited correlation between variant location and clinical outcomes.
Read the summary
Peer-reviewed · International Journal of Genomics · 2026
Alport Syndrome–Associated Pathogenic COL4A4 Variant in Sisters With Chronic Kidney Disease: Clinical Findings and Integrative Network Analysis
This study set out to identify the genetic cause of chronic kidney disease in two sisters using whole-exome sequencing and integrative network analysis. It found an 18-base pair deletion in COL4A4, classified as pathogenic and consistent with autosomal recessive Alport syndrome, with linked PI3K-Akt and AGE-RAGE pathway involvement.
Read the summary
Peer-reviewed · Biology · 2026
Why Should a Genome Be Protected? Ethical, Legal, and Security Challenges in the Protection of Genomic Data
This review examines the ethical, legal, and security challenges of protecting genomic data. It argues that falling sequencing prices and commercial genome testing raise ethical and privacy risks, and that online genomic datasets need a balance between biosafety oversight and the right to privacy.
Read the summary
Peer-reviewed · Scientific Reports · 2026
Liver transcriptome dynamics in Holstein cows during the periparturient transition
The study compared liver gene expression in six Holstein cows before and after calving to map how the organ adapts to early lactation. It found 198 differentially expressed genes, with a shift towards energy production and cell survival rather than storage and growth.
Read the summary
Peer-reviewed · International Journal of Molecular Sciences · 2026
Diversity of Cardinium Endosymbiont Genomes from Plant-Parasitic Nematodes
This study generated ten new Cardinium genomes from plant-parasitic nematodes, showing that groups B and F are closely related and likely share a single evolutionary origin. Two genomes from Bursaphelenchus species showed substantial genome reduction, and analysis found losses in several metabolic pathways and evidence of horizontal gene transfer.
Read the summary
Peer-reviewed · International Journal of Molecular Sciences · 2026
Description of a Large Family with Periodic Fever Carrying a Variant in RXFP1 Gene: A Possible Novel Modulator of Inflammation in Autoinflammatory Diseases
The study describes a three-generation family with a PFAPA-like recurrent fever syndrome inherited in an autosomal dominant pattern. Whole-exome sequencing identified a rare, damaging RXFP1 variant that co-segregated with the disease, linking relaxin signalling to hereditary recurrent fever for the first time.
Read the summary
Peer-reviewed · Nature Communications · 2025
Cell line-matched reference enables high-precision functional genomics
The study tested whether a reference genome matched to the experimental cell line improves analysis of sequencing data, using a newly generated reference for the human cell line RPE-1. The matched reference improved genomic, epigenomic and transcriptomic analyses and CRISPR genome editing, and revealed haplotype-specific differences across centromeres.
Read the summary
Peer-reviewed · BJUI Compass · 2025
Germline homologous recombination repair (gHRR) variants in bladder cancer: Preliminary evidence and clinical implications
The study assessed the prevalence and clinical implications of germline variants in 20 DNA repair genes in bladder cancer patients of European ancestry. It found variants in about a third of patients, who more often had histopathological variants and underwent radical cystectomy at a younger age.
Read the summary
Peer-reviewed · Nature Communications · 2025
The reference genome of the human diploid cell line RPE-1
This study aimed to produce a reference-quality diploid genome assembly for hTERT RPE-1, a widely used non-cancerous retinal epithelial model. Using long-read sequencing and Hi-C data, the authors built a phased assembly spanning all centromeres and identified haplotype-specific variation, including a characteristic translocation between chromosomes X and 10.
Read the summary
Peer-reviewed · Nature Scientific Reports · 2025
Transcriptomic profiling of skeletal muscle in the DMDmdx rat model of Duchenne muscular dystrophy
This study provides a combined histological, biochemical, and RNA-seq characterisation of the DMD^mdx rat model of Duchenne muscular dystrophy, identifying 3,615 differentially expressed genes centred on muscle contraction, cytoskeletal, and ECM pathways. The authors position the rat as a more faithful model of human DMD than the mdx mouse, with more severe fibrosis, oxidative stress, and transcriptomic disruption.
Read the summary
Peer-reviewed · Biochemical Genetics · 2025
Transcriptome Analysis of TGFBI Knockdown vs Normal Corneal Epithelial Cells: Implications for TGFBI Corneal Dystrophy Treatment
The study used shRNA lentiviral vectors to knock down the TGFBI gene in human corneal epithelial cells and profiled the resulting transcriptome changes. A 70.5% knockdown altered genes linked to inflammation, angiogenesis, scarring and extracellular matrix remodelling, supporting shRNA therapy as a potential treatment for TGFBI corneal dystrophies.
Read the summary
Peer-reviewed · Gigabyte · 2024
Low-coverage whole genome sequencing for a highly selective cohort of severe COVID-19 patients
This study explored imputation in low-coverage whole genome sequencing for severe COVID-19 patients. The authors imputed 79 genomes with GLIMPSE1 and found high accuracy (squared Pearson correlation ≍0.97) across sequencing platforms, confidently imputing variants with minor allele frequencies as low as 2% in individuals with Spanish ancestry.
Read the summary
Peer-reviewed · Children · 2024
Lethal Complications and Complex Genotypes in Shwachman Diamond Syndrome: Report of a Family with Recurrent Neonatal Deaths and a Case-Based Brief Review of the Literature
The paper reports a family with recurrent neonatal deaths in which a novel complex SBDS and WFS1 genotype was detected, and reviews the literature on Shwachman Diamond Syndrome. The review of fatal cases and complex genotypes found rare cases, some with unexpected genetic and clinical findings.
Read the summary
Peer-reviewed · Cell journal · 2024
A Mutational Hotspot in The LAMP2 Gene: Unravelling Intrafamilial Phenotypic Variation and Global Distribution of The c.877C>T Variant: A Descriptive Study
The study set out to characterise genotype and phenotype in a newly diagnosed Iranian family with Danon disease and to compare all reported carriers of the LAMP2 c.877C>T variant. It found nine affected males with variable left ventricular hypertrophy and consistent cardiac conduction abnormalities, highlighting marked intrafamilial phenotypic variability.
Read the summary
Preprint · bioRxiv · 2023
The complete diploid reference genome of RPE-1 identifies human phased epigenetic landscapes
This work assembled a complete diploid genome for the human cell line RPE-1, with fully phased haplotypes and chromosome-level scaffolds that span centromeres. Using this matched reference improved mapping of multi-omics sequencing data from RPE-1 cells and revealed haplotype-specific genetic and epigenetic variation.
Read the summary
Peer-reviewed · International Journal of Molecular Sciences · 2023
Evolution of Resistance to Irinotecan in Cancer Cells Involves Generation of Topoisomerase-Guided Mutations in Non-Coding Genome That Reduce the Chances of DNA Breaks
This study investigated how cancer cells develop resistance to the chemotherapy drug irinotecan. It found that resistance develops gradually through recurrent mutations in non-coding DNA at topoisomerase 1 cleavage sites, which reduce the DNA breaks caused by later drug exposures.
Read the summary
Peer-reviewed · iScience · 2023
Genomic evidence for adaptation to tuberculosis in the Andes before European contact
The study analysed high-coverage whole genomes from Indigenous people in the Ecuadorian highlands to identify signals of natural selection. The strongest signals lay in immune regions associated with tuberculosis, suggesting adaptation thousands of years before European contact, alongside a severe population collapse coinciding with European arrival.
Read the summary
Peer-reviewed · Scientific Reports · 2022
Chromosomal phase improves aneuploidy detection in non-invasive prenatal testing at low fetal DNA fractions
The work tested whether chromosomal phase — the arrangement of alleles along homologous chromosomes — could improve non-invasive prenatal testing at very low fetal DNA fractions. After in silico validation, the authors re-analysed one such case and conclusively inferred a trisomy 18 fetus that standard testing had left inconclusive.
Read the summary
Peer-reviewed · Genes · 2022
A Formative Study of the Implementation of Whole Genome Sequencing in Northern Ireland
The study evaluated the introduction of whole genome sequencing for rare disease diagnostics in Northern Ireland under the UK 100,000 Genomes Project, drawing on surveys, interviews and a workshop with over 400 participants. It recommends improvements to consent, education, computational infrastructure and multidisciplinary collaboration to mainstream genomic medicine.
Read the summary
Peer-reviewed · PNAS Nexus · 2022
The genomic prehistory of the Indigenous peoples of Uruguay
This study presents the first whole genome sequences of Uruguay's Indigenous peoples from before European contact, from a 2,000-year-old site in eastern Uruguay. The individuals were linked to ancient individuals from Panama and eastern Brazil but not modern Amazonians, and carried a distinct ancestry previously undetected in South America.
Read the summary
Conference · The Journal of Prevention of Alzheimer's Disease · 2021
Symposia — Oral Communications — Late Breaking News
This work set out to investigate whether a cluster of genetic variants at the 2q12 locus could predict how patients with mild Alzheimer's disease respond to piromelatine. It reported that this polymorphism cluster may predict patients' response to the treatment.
Read the summary
Peer-reviewed · Biotechnology for Biofuels · 2021
A novel Penicillium sumatraense isolate reveals an arsenal of degrading enzymes exploitable in algal bio-refinery processes
This work sought enzymes able to break down microalgal cell walls and improve lipid extraction for biofuel production. It isolated and whole-genome sequenced a novel Penicillium sumatraense fungus whose filtrate increased lipid and chlorophyll release from Chlorella vulgaris by 48.9% and 42.6%.
Read the summary
Peer-reviewed · Data in Brief · 2021
Replicate whole-genome next-generation sequencing data derived from Caucasian donor saliva samples
This work provides a publicly available triplicate whole-genome sequencing dataset from saliva DNA of a single anonymous male donor, intended for testing bioinformatics pipelines. Across the three replicates, 81% of variants appeared in at least two samples, and the karyotype was 46,XY with no apparent copy-number variation.
Read the summary
Peer-reviewed · Biomolecules · 2020
The Skeleton in the Closet: Faults and Strengths of Public Versus Private Genetic Biobanks
This article examined the ethical debate around direct-to-consumer genetic testing and compared public and private genetic biobanks. It found that transparency and trust are the most relevant ethical factors, and that dialogue between the public sector, private sector and citizens is essential to balance consumer markets with public biobanking.
Read the summary
Peer-reviewed · Journal of Medical Internet Research · 2020
Valuable Genomes: Taxonomy and Archetypes of Business Models in Direct-to-Consumer Genetic Testing
The study set out to systematically map business models in the direct-to-consumer genetic testing market. Drawing on a database of 277 services, it developed a 15-dimension taxonomy and identified six dominant business model archetypes.
Read the summary

One test. A lifetime of answers.

One kit, sent to your home. Your entire genome sequenced at the clinical standard used for diagnostic decisions. Physician-ready reports delivered to your Genome Manager in 6–8 weeks — permanent and updated as science advances.

From $449

Free shipping · Results in 6–8 weeks

Get my Genome Test