Associated Papers
Millennium-old pathogenic Mendelian mutation discovery for multiple osteochondromas from a Gaelic Medieval graveyard.
Jackson I et al.
European Journal of Human Genetics : Ejhg, 2023
36443465 (PubMed )
Supplement: EMS155735-supplement-Supplemental_tables.xlsx › Table_S5_Variants_within_50bp_S
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
33726816 (PubMed )
Supplement: 13073_2021_855_MOESM3_ESM.xlsx › Reported_genes_and_variants
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