menú

Laboratorios

Laboratorios

Centro de Optimización Genética

Centro de Optimización Genética

El centro para la comunidad científica y clínica para validar, construir y evaluar modelos ponderados abiertos.

El centro para la comunidad científica y clínica para validar, construir y evaluar modelos ponderados abiertos.

El centro para la comunidad científica y clínica para validar, construir y evaluar modelos ponderados abiertos.

El centro para la comunidad científica y clínica para validar, construir y evaluar modelos ponderados abiertos.

Featured model

Nucleus Origin is a set of open-weighted prediction models for nine different diseases. It has been trained and validated on 1.5 million people across diverse ancestries.

Nucleus Origin is a set of open-weighted prediction models for nine different diseases. It has been trained and validated on 1.5 million people across diverse ancestries.

token

State-of-the-art prediction

The most accurate published lifetime disease predictions from embryonic DNA.*

fiber_smart_record

Open-weight

The first and only commercially available open-weight model.

published_with_changes

Rigorously validated

Validated on millions of genomes from diverse populations worldwide.

Other models

Thompson

2024

Genomics plc paper presented a flagship set of PRS developed and validated across multiple biobanks.

Genomics plc paper presented a flagship set of PRS developed and validated across multiple biobanks.

Mars

2022

Researchers at the University of Helsinki and the Broad validated PRS in the FinnGen biobank, showing large improvements over previous work.

Researchers at the University of Helsinki and the Broad validated PRS in the FinnGen biobank, showing large improvements over previous work.

Benchmarks

Liability R² by disease

Origin
Thompson
Mars

Liability R2

0.3

0.2

0.1

0

Alzheimer's disease
Breast cancer
CAD
Endometriosis
Hypertension
Prostate cancer
Rheumatoid arthritis
Type 1 diabetes
Type 2 diabetes

Liability R² by disease

Origin
Thompson
Mars

Liability R2

0.3

0.2

0.1

0

Alzheimer's disease
Breast cancer
CAD
Endometriosis
Hypertension
Prostate cancer
Rheumatoid arthritis
Type 1 diabetes
Type 2 diabetes
Nucleus Origin

Impact of embryo selection

-74.2% risk

When selecting from
5 embryos

Estimated risk (%)

20

15

10

5

0

74.2%
reduction
Embryo 1Embryo 5

The calculator generates the relative risk reduction for diseases — and the difference in trait values — across two to ten viable embryos of European ancestry for the most widely used polygenic scores Nucleus Embryo offers.

UK Biobank Validation of Nucleus Models

PhenotypeVariant CountLifetime PrevalencePopulation R2Within-family R2
Acne734329816%7.2%7.2%
ADHD726925112%2.4%2.4%
Age-related macular degeneration729810925.2%6%6%
Alcohol dependence734921332.6%5.7%5.7%
Alzheimer's disease732254611.1%21.1%21.1%
Autism spectrum disorder73317962.8%2%2%
Asthma725700713.8%9.9%9.9%
Anxiety disorders729593916%3.8%3.8%
Bipolar disorder73023532.1%5.4%5.4%
BMI6948419NA19%17.8%
Breast cancer723259013.7%12.9%12.9%
Celiac disease72612831.1%13.1%8.8%
Colorectal cancer73126793.9%6.4%6.4%
Coronary artery disease720168840.1%21%21%
Depression725600915%5.5%5.5%
Endometriosis734926611%6%6%
Height7147327NA42.8%42.8%
Hypertension719332057.2%15.6%15.6%
Insomnia731375530%3.5%2.3%
Intelligence7128585NA23.8%19.1%
Migraine733432523.2%6.3%6.3%
Multiple sclerosis73300150.37%7.1%7.1%
Muscle strength7250352NA9.4%8.7%
OCD72688972.3%4.4%4.4%
Osteoarthritis731895437.3%5.3%5.3%
Ovarian cancer73536941.1%2.6%2.6%
Parkinson's disease73526235.6%3.4%3.4%
Polycystic ovarian syndrome735264615%5.1%5.1%
Prostate cancer710762012.7%21.7%21.7%
Restless legs syndrome732093710.3%8.9%8.9%
Rheumatoid arthritis72614031.8%5.7%5.7%
Schizophrenia73018171%9.3%9.3%
Seasonal allergies733091128.5%8.8%8.8%
Type 1 diabetes73152910.59%20.4%14%
Type 2 diabetes721986029%25.4%25.4%

All updates

Jul 20, 2026

July 2026 update

This update introduced three changes. First, disease risk is reported exclusively as Lifetime Risk, representing the probability of developing a given disease over the course of a person’s lifetime. Second, the ancestry algorithm has been expanded to identify additional ancestry groups, including Middle Eastern and mixed East Asian/European populations. Third, the reference ancestry populations have been updated to incorporate samples from the All of Us Research Program, providing a reference panel that is more genetically representative of Nucleus’ patient population.

Mar 27, 2026

March 2026 update

Updated models were created using SBayesRC and the largest available sample size, similar to models from the Nucleus Origin update below. Models were updated for ADHD, age-related macular degeneration, alcohol dependence, anxiety disorders, asthma, bipolar, celiac disease, depression, insomnia, migraine, multiple sclerosis, OCD, osteoarthritis, ovarian cancer, restless legs syndrome, rheumatoid arthritis, and schizophrenia.

Oct 21, 2025

Nucleus Origin

A family of nine advanced polygenic predictors.

Updated polygenic risk score models for Alzheimer's disease, breast cancer (including male breast cancer), coronary artery disease, endometriosis, hypertension, prostate cancer, rheumatoid arthritis, type 1 diabetes, and type 2 diabetes.

References

Mars N, Lindbohm JV, Della Briotta Parolo P, et al. Systematic comparison of family history and polygenic risk across 24 common diseases. Am J Hum Genet. 2022 Dec 1;109(12):2152-2162. doi: 10.1016/j.ajhg.2022.10.009. Epub 2022 Nov 7. PMID: 36347255.

Thompson DJ, Wells D, Selzam S, et al. A systematic evaluation of the performance and properties of the UK Biobank Polygenic Risk Score (PRS) Release. PLoS One. 2024 Sep 18;19(9):e0307270. doi: 10.1371/journal.pone.0307270. PMID: 39292644.

* El pasivo R2 en comparación con otras publicaciones emblemáticas como Mars y Thompson, que se muestran de manera más destacada en el gráfico de pasivo R² por enfermedad.