Nature Search

The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions

Meta-analyses of genome-wide association studies for endometriosis identify 49 distinct association signals. Fine-mapping of causal variants explores functional effects across various tissues. Genetic correlations between endometriosis and other pain conditions are also highlighted.

Nilufer Rahmioglu
Sally Mortlock
Krina T. Zondervan
Research13 Mar 2023
Nature Genetics

Volume: 55, P: 423-436
CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits

Individual SNPs have small effects on anthropometric traits, yet the impact of CNVs has remained largely unknown. Here, Kutalik and co-workers perform a large-scale genome-wide meta-analysis of structural variation and find rare CNVs associated with height, weight and BMI with large effect sizes.

Aurélien Macé
Marcus A. Tuke
Zoltán Kutalik
ResearchOpen Access29 Sept 2017
Nature Communications

Volume: 8, P: 1-11
The Estonian Biobank’s journey from biobanking to personalized medicine

Large-scale biobanks have become a font of data that have led to discoveries across many fields of research. Here, the authors provide an overview of the Estonian Biobank, highlighting its value for research and towards personalized medicine.

Lili Milani
Maris Alver
Andres Metspalu
ReviewsOpen Access05 Apr 2025
Nature Communications

Volume: 16, P: 1-13
In vitro fertilization does not increase the incidence of de novo copy number alterations in fetal and placental lineages

Characterization of the genomic landscape of fetal and placental postpartum tissues shows that chromosomal instability associated with in vitro fertilization (IVF) is not preserved at later stages of prenatal development. Thus rates of de novo numerical aberrations or large structural DNA imbalances are similar between IVF and naturally conceived live-born neonates.

Masoud Zamani Esteki
Triin Viltrop
Andres Salumets
Research04 Nov 2019
Nature Medicine

Volume: 25, P: 1699-1705
Coffin–Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene

Mari-Anne Vals
Eve Õiglane-Shlik
Katrin Õunap
Research26 Feb 2014
European Journal of Human Genetics

Volume: 22, P: 1327-1329
Use of Estonian Biobank data and participant recall to improve Wilson’s disease management

Miriam Nurm
Anu Reigo
Neeme Tõnisson
ResearchOpen Access14 Dec 2024
European Journal of Human Genetics

P: 1-10
Lessons learned during the process of reporting individual genomic results to participants of a population-based biobank

Liis Leitsalu
Anu Reigo
Andres Metspalu
Research03 Oct 2022
European Journal of Human Genetics

Volume: 31, P: 1048-1056

Search

The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions

CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits

The Estonian Biobank’s journey from biobanking to personalized medicine

In vitro fertilization does not increase the incidence of de novo copy number alterations in fetal and placental lineages

Coffin–Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene

Use of Estonian Biobank data and participant recall to improve Wilson’s disease management

Lessons learned during the process of reporting individual genomic results to participants of a population-based biobank

Search

Quick links

Search

Filter By:

The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions

CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits

The Estonian Biobank’s journey from biobanking to personalized medicine

In vitro fertilization does not increase the incidence of de novo copy number alterations in fetal and placental lineages

Coffin–Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene

Use of Estonian Biobank data and participant recall to improve Wilson’s disease management

Lessons learned during the process of reporting individual genomic results to participants of a population-based biobank

Search

Quick links