Discover Community Create You

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

Article

Tackling the achilles' heel of genetic testing.

Science translational medicine - 14 Jan 2015

Watkins Hugh

Abstract excerpt

Assigning pathogenicity to rare genetic variants is at its hardest with the enormous titin gene, but comprehensive genomic analysis makes the task more tractable (Roberts et al., this issue).

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alleles
Share to Connectin
Share to Heart
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Transcription, Genetic

Source

Identifiers

PMID: 25589629
DOI: 10.1126/scitranslmed.aaa4276

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Tackling the achilles' heel of genetic testing.PMID 25589629Read ↗

Walking with giants: The challenges of variant impact assessment in the giant sarcomeric protein titinSemantic proximity Read ↗

TITINdb-a computational tool to assess titin's role as a disease gene.Semantic proximity Read ↗

The burden of TTN variants in the genomic era: Analysis of 18,462 individuals from the Solve-RD consortium and general recommendations.Semantic proximity Read ↗

The constantly evolving spectrum of phenotypes in titinopathies - will it ever stop?Semantic proximity Read ↗

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.Semantic proximity Read ↗

The importance of an integrated genotype-phenotype strategy to unravel the molecular bases of titinopathies.Semantic proximity Read ↗

A comprehensive framework for the interpretation of <i>TTN</i> missense variantsSemantic proximity Read ↗

A comprehensive framework for the interpretation of TTN missense variantsSemantic proximity Read ↗

A comprehensive framework for the interpretation of TTN missense variants.Semantic proximity Read ↗

Improved Criteria for the Classification of Titin Variants in Inherited Skeletal MyopathiesSemantic proximity Read ↗

A rising titan: TTN review and mutation update.Semantic proximity Read ↗

TITINdb2 – Expanding Annotation and Structural Information for Protein Variants in the Giant Sarcomeric Protein TitinSemantic proximity Read ↗

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