Tackling the achilles' heel of genetic testing.
editorial · Level V
Where this comes from
- Record sourced from PubMed, PMID 25589629.
- Also identified by DOI 10.1126/scitranslmed.aaa4276.
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Abstract
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).
Medical subject headings
- Alleles
- Connectin
- Heart
- Mutation
- Transcription, Genetic