Associated Papers
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
39825153 (PubMed )
Supplement: 41591_2024_3420_MOESM3_ESM.xlsx › SuppTableS4.Disease_Causing
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Pagnamenta AT et al.
Genome Medicine, 2023
37946251 (PubMed )
Supplement: 13073_2023_1240_MOESM3_ESM.xlsx › Table_S7_ResultsAllVariant
Neuroblastoma arises in early fetal development and its evolutionary duration predicts outcome.
Körber V et al.
Nature Genetics, 2023
36973454 (PubMed )
Supplement: 41588_2023_1332_MOESM4_ESM.xlsx › Supplementary_Table_7
Uncovering Essential Tremor Genetics: The Promise of Long-Read Sequencing.
Marsili L et al.
Frontiers in Neurology, 2022
Sequencing of human genomes with nanopore technology.
Bowden R et al.
Nature Communications, 2019
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