Active: Nature Clear all

GWAS 2025-08-06

Whole-genome sequencing of 490,640 UK Biobank participants.

UK Biobank Whole-Genome Sequencing Consortium

Nature

Whole-genome sequencing provides an unbiased and complete view of the human genome and enables the d...

ICD10 D60-D64: Aplastic and other anemias and other bone marrow failure syndromes

2863

Participants

N/A

Studies

Details PubMed

GWAS 2025-04-09

Translational genomics of osteoarthritis in 1,962,069 individuals.

Hatzikotoulas K, Southam L et al.

Nature

Osteoarthritis is the third most rapidly growing health condition associated with disability, after ...

Osteoarthritis

1962069

Participants

N/A

Studies

Details PubMed

GWAS 2025-02-12

Genetic architecture in Greenland is shaped by demography, structure and selection.

Stæger FF, Andersen MK et al.

Nature

Greenlandic Inuit and other indigenous populations are underrepresented in genetic research1,2, lead...

GIF levels

3707

Participants

N/A

Studies

Details PubMed

GWAS 2024-06-12

Genetic drivers and cellular selection of female mosaic X chromosome loss.

Liu A, Genovese G et al.

Nature

Mosaic loss of the X chromosome (mLOX) is the most common clonal somatic alteration in leukocytes of...

Mosaic loss of chromosome X

806257

Participants

N/A

Studies

Details PubMed

GWAS 2024-03-06

Genome-wide characterization of circulating metabolic biomarkers.

Karjalainen MK, Karthikeyan S et al.

Nature

Genome-wide association analyses using high-throughput metabolomics platforms have led to novel insi...

Free cholesterol in medium VLDL

136016

Participants

N/A

Studies

Details PubMed

GWAS 2024-02-19

Genetic drivers of heterogeneity in type 2 diabetes pathophysiology.

Suzuki K, Hatzikotoulas K et al.

Nature

Type 2 diabetes (T2D) is a heterogeneous disease that develops through diverse pathophysiological pr...

Type 2 diabetes

2535601

Participants

N/A

Studies

Details PubMed

GWAS 2024-01-31

The Born in Guangzhou Cohort Study enables generational genetic discoveries.

Huang S, Liu S et al.

Nature

Genomic research that targets large-scale, prospective birth cohorts constitutes an essential strate...

Gestational weight gain rate

Replicated

1566

Participants

N/A

Studies

Details PubMed

GWAS 2023-10-11

Mexican Biobank advances population and medical genomics of diverse ancestries.

Sohail M, Palma-Martínez MJ et al.

Nature

Latin America continues to be severely underrepresented in genomics research, and fine-scale genetic...

Arthritis

5721

Participants

N/A

Studies

Details PubMed

GWAS 2023-10-04

Rare variant associations with plasma protein levels in the UK Biobank.

Dhindsa RS, Burren OS et al.

Nature

Integrating human genomics and proteomics can help elucidate disease mechanisms, identify clinical b...

Collagen alpha-1 levels (COL9A1:P20849:OID20550:v1)

46327

Participants

N/A

Studies

Details PubMed

GWAS 2023-08-16

Nuclear genetic control of mtDNA copy number and heteroplasmy in humans.

Gupta R, Kanai M et al.

Nature

Mitochondrial DNA (mtDNA) is a maternally inherited, high-copy-number genome required for oxidative ...

Mitochondrial DNA heteroplasmy (chrM:16179:CAA:C case-only heteroplasmy)

1874

Participants

N/A

Studies

Details PubMed

GWAS 2023-08-02

Africa-specific human genetic variation near CHD1L associates with HIV-1 load.

McLaren PJ, Porreca I et al.

Nature

HIV-1 remains a global health crisis1, highlighting the need to identify new targets for therapies. ...

HIV setpoint viral load

3879

Participants

N/A

Studies

Details PubMed

GWAS 2023-06-28

Locus for severity implicates CNS resilience in progression of multiple sclerosis.

International Multiple Sclerosis Genetics Consortium

Nature

Multiple sclerosis (MS) is an autoimmune disease of the central nervous system (CNS) that results in...

Age-related multiple sclerosis severity score

Replicated

22389

Participants

N/A

Studies

Details PubMed

Title

Author

Journal

Disease/Trait

Date

Actions

Whole-genome sequencing of 490,640 UK Biobank participants.

UK Biobank Whole-Genome Sequencing Consortium

Nature

ICD10 D60-D64: Aplastic and other anemias and other bone marrow failure syndromes

2025-08-06

Translational genomics of osteoarthritis in 1,962,069 individuals.

Hatzikotoulas K, Southam L et al.

Nature

Osteoarthritis

2025-04-09

Genetic architecture in Greenland is shaped by demography, structure and selection.

Stæger FF, Andersen MK et al.

Nature

GIF levels

2025-02-12

Genetic drivers and cellular selection of female mosaic X chromosome loss.

Liu A, Genovese G et al.

Nature

Mosaic loss of chromosome X

2024-06-12

Genome-wide characterization of circulating metabolic biomarkers.

Karjalainen MK, Karthikeyan S et al.

Nature

Free cholesterol in medium VLDL

2024-03-06

Genetic drivers of heterogeneity in type 2 diabetes pathophysiology.

Suzuki K, Hatzikotoulas K et al.

Nature

Type 2 diabetes

2024-02-19

The Born in Guangzhou Cohort Study enables generational genetic discoveries.

Huang S, Liu S et al.

Nature

Gestational weight gain rate

2024-01-31

Mexican Biobank advances population and medical genomics of diverse ancestries.

Sohail M, Palma-Martínez MJ et al.

Nature

Arthritis

2023-10-11

Rare variant associations with plasma protein levels in the UK Biobank.

Dhindsa RS, Burren OS et al.

Nature

Collagen alpha-1 levels (COL9A1:P20849:OID20550:v1)

2023-10-04

Nuclear genetic control of mtDNA copy number and heteroplasmy in humans.

Gupta R, Kanai M et al.

Nature

Mitochondrial DNA heteroplasmy (chrM:16179:CAA:C case-only heteroplasmy)

2023-08-16

Africa-specific human genetic variation near CHD1L associates with HIV-1 load.

McLaren PJ, Porreca I et al.

Nature

HIV setpoint viral load

2023-08-02

Locus for severity implicates CNS resilience in progression of multiple sclerosis.

International Multiple Sclerosis Genetics Consortium

Nature

Age-related multiple sclerosis severity score

2023-06-28