Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Topics Community

Article

Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery.

Genome medicine - 29 Oct 2024

Josephs Katherine S, Seaby Eleanor G, May Philippa, Theotokis Pantazis, Yu Jing, Andreou Avgi, Sinclair Hannah, Morris-Rosendahl Deborah, Thomas Ellen R A, Ennis Sarah, Roberts Angharad M, Ware James S

Abstract excerpt

BACKGROUND: Cardiomyopathies are clinically important conditions, with a strong genetic component. National genomic initiatives such as 100,000 Genome Project (100KGP) provide opportunity to study these rare conditions at scale beyond conventional research studies. METHODS: We present the clinical and molecular characteristics of the 100KGP cohort, comparing paediatric and adult probands with diverse...

Topics

Humans
Cardiomyopathies
Child
Male
Adult
Female
Adolescent
Child, Preschool
Middle Aged
Genomics
Infant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genome, Human

Young Adult

Genetic Predisposition to Disease

Genetic Testing

Source

Open in PubMed Open full text

Identifiers

PMID: 39472908
DOI: 10.1186/s13073-024-01390-9
PMCID: PMC11520845

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery.PMID 39472908Read ↗

The genetic architecture of pediatric cardiomyopathy.Semantic proximity Read ↗

Genetic Causes of Cardiomyopathy in Children: First Results From the Pediatric Cardiomyopathy Genes Study.Semantic proximity Read ↗

Inherited CardiomyopathiesSemantic proximity Read ↗

Cardiomyopathies and Genetic Testing in Heart Failure: Role in Defining Phenotype-Targeted Approaches and Management.Semantic proximity Read ↗

Genetics of paediatric cardiomyopathies.Semantic proximity Read ↗

Genetic testing in cardiomyopathies: updates and future perspectives.Semantic proximity Read ↗

Using whole genome sequence findings to assess gene-disease causality in cardiomyopathy and arrhythmia patients.Semantic proximity Read ↗

The Role of Genetic Testing in Diagnosis and Care of Inherited Cardiac Conditions in a Specialised Multidisciplinary ClinicSemantic proximity Read ↗

Screening for Pathogenic Variants in Cardiomyopathy Genes Predicts Mortality and Composite Outcomes in UK BiobankSemantic proximity Read ↗

Genetic Evaluation and Screening in Cardiomyopathies: Opportunities and Challenges for Personalized MedicineSemantic proximity Read ↗

The genetics of cardiomyopathies: what clinicians should know.Semantic proximity Read ↗

From Rare Genetic Variants to Polygenic Risk: Understanding the Genetic Basis of CardiomyopathiesSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.