Article

Exploring Rare Genetic Variation Underlying Metabolic Traits in the Fenland Cohort

2026-08-14

Abstract excerpt

<title>Abstract</title> <p>Recent large-scale whole-exome sequencing (WES) studies in population biobanks have transformed our understanding of the role of rare protein coding on human health. However, the size and design of these biobanks limit deep phenotyping and genotype-targeted follow-up. To address this, we present new WES in the Fenland study, a population-based cohort of 11,458 individuals with extended...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 04371abd-aaa6-5468-911a-454401d0ab60
DOI: 10.21203/rs.3.rs-10473668/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Exploring Rare Genetic Variation Underlying Metabolic Traits in the Fenland CohortDOI 10.21203/rs.3.rs-10473668/v1Read

Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes.Semantic proximity Read

Rare Genetic Variation Underlying Human Diseases and Traits: Results from 200,000 Individuals in the UK BiobankSemantic proximity Read

Characterization of exome variants and their metabolic impact in 6,716 American Indians from Southwest USSemantic proximity Read

Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank.Semantic proximity Read

Characterization of Exome Variants and Their Metabolic Impact in 6,716 American Indians from the Southwest US.Semantic proximity Read

Integrative exome sequencing and multi-omics analysis elucidates the regulatory role of rare variants in metabolic syndrome.Semantic proximity Read

Clinical-Exome Sequencing Unveils the Genetic Landscape of Polycystic Ovarian Syndrome (PCOS) Focusing on Lean and Obese Phenotypes: Implications for Cost-Effective Diagnosis and Personalized TreatmentSemantic proximity Read

Genome-wide rare variant analysis for thousands of phenotypes in 54,000 exomesSemantic proximity Read

Whole exome sequencing identifies variation in CYB5A and RNF10 associated with adiposity and type 2 diabetes.Semantic proximity Read

Common and Rare Variants Associated with Cardiometabolic Traits across 98,622 Whole-Genome Sequences in the<i>All of Us</i>Research ProgramSemantic proximity Read

Uncovering covariance patterns across energy balance traits enables the discovery of new obesity‐related genesSemantic proximity Read

Assessing the contribution of rare-to-common protein-coding variants to circulating metabolic biomarker levels via 412,394 UK Biobank exome sequencesSemantic proximity Read