Etiqueta: #EurJHumGen
-
Systematic benchmarking demonstrates large language models have not reached the diagnostic accuracy of traditional rare-disease decision support tools
European Journal of Human Genetics, Published online: 24 February 2026; doi:10.1038/s41431-026-02054-5Systematic benchmarking demonstrates large language models have not reached the diagnostic accuracy of traditional rare-disease decis…
-
Parental experiences of receiving genomic newborn screening results: findings from the BabyScreen+ study
European Journal of Human Genetics, Published online: 24 February 2026; doi:10.1038/s41431-026-02036-7Parental experiences of receiving genomic newborn screening results: findings from the BabyScreen+ study
-
A qualitative study exploring young adult’s attitudes towards adopting whole genome sequencing into newborn screening programs
European Journal of Human Genetics, Published online: 23 February 2026; doi:10.1038/s41431-026-02047-4A qualitative study exploring young adult’s attitudes towards adopting whole genome sequencing into newborn screening programs
-
“It was up to me to be curious”: perceptions and experiences of students with intellectual disability on genetics and health education
European Journal of Human Genetics, Published online: 23 February 2026; doi:10.1038/s41431-026-02041-w“It was up to me to be curious”: perceptions and experiences of students with intellectual disability on genetics and health educatio…
-
Integrating germline and tumor sequencing to improve hereditary cancer diagnosis and care
European Journal of Human Genetics, Published online: 23 February 2026; doi:10.1038/s41431-026-02046-5Integrating germline and tumor sequencing to improve hereditary cancer diagnosis and care
-
Flexible and rapid validation of structural variation using adaptive sampling
European Journal of Human Genetics, Published online: 23 February 2026; doi:10.1038/s41431-026-02039-4Flexible and rapid validation of structural variation using adaptive sampling
-
Personal utility of genomic results: Application and validation of the PrU scale to the Australian context
European Journal of Human Genetics, Published online: 21 February 2026; doi:10.1038/s41431-026-02052-7Personal utility of genomic results: Application and validation of the PrU scale to the Australian context
-
Ongoing refinements in chronological frameworks describing the presence of Indo-European/Indic languages in the Indian subcontinent
European Journal of Human Genetics, Published online: 20 February 2026; doi:10.1038/s41431-026-02056-3Ongoing refinements in chronological frameworks describing the presence of Indo-European/Indic languages in the Indian subcontinent
-
<i>TMC6/8</i>-associated epidermodysplasia verruciformis: germline variants and a complex structural alteration in a skin cancer predisposition syndrome
European Journal of Human Genetics, Published online: 18 February 2026; doi:10.1038/s41431-026-02043-8TMC6/8-associated epidermodysplasia verruciformis: germline variants and a complex structural alteration in a skin cancer predisposit…
-
An NGS-based investigation of copy number variants in the diagnosis and severity of adult polycystic kidney disease
European Journal of Human Genetics, Published online: 18 February 2026; doi:10.1038/s41431-026-02027-8An NGS-based investigation of copy number variants in the diagnosis and severity of adult polycystic kidney disease