ArticleBMC medical genomics2021
HPO-driven virtual gene panel: a new efficient approach in molecular autopsy of sudden unexplained death.
Article in BMC medical genomics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 7 citations in OpenAlex.
- Molecular mechanisms of sudden unexplained death and recent updates on molecular autopsy strategies for forensic investigation.International journal of legal medicine · 2026Review
- Retrospective analysis-based prioritization and degradation pattern characterization of sudden unexplained death susceptibility genes.International journal of legal medicine · 2026Article
- Post-mortem genetic analysis of sudden unexplained death in a young cohort: a whole-exome sequencing study.International journal of legal medicine · 2023Article
- Identification and validation of subclusters of papillary thyroid carcinoma based on Human Phenotype Ontology.Gland surgery · 2023Article
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMolecular autopsy represents an efficient tool to save the diagnosis in up to one-third of sudden unexplained death (SUD). A defined gene panel is usually used for the examination. Alternatively, it is possible to carry out a comprehensive genetic assessment (whole exome sequencing, WES), which also identifies rare, previously unknown variants. The disadvantage is that a dramatic number of variants must be assessed to identify the causal variant. To improve the evaluation of WES, the human phenotype ontology (HPO) annotation is used internationally for deep phenotyping in the field of rare disease. However, a HPO-based evaluation of WES in SUD has not been described before.
methodsWe performed WES in tissue samples from 16 people after SUD. Instead of a fixed gene panel, we defined a set of HPO terms and thus created a flexible "virtual gene panel", with the advantage, that recently identified genes are automatically associated by HPO terms in the HPO database.
resultsWe obtained a mean value of 68,947 variants per sample. Stringent filtering ended up in a mean value of 276 variants per sample. Using the HPO-driven virtual gene panel we developed an algorithm that prioritized 1.4% of the variants. Variant interpretation resulted in eleven potentially causative variants in 16 individuals.
conclusionOur data introduce an effective diagnostic procedure in molecular autopsy of SUD with a non-specific clinical phenotype.
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