Βιβλιογραφία
- Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel
- Inherited DNA as well as tumor mutations drive cancer
- Precision proteogenomics reveals pan-cancer impact of germline variants (part C)
- Precision proteogenomics reveals pan-cancer impact of germline variants (part B)
- Precision proteogenomics reveals pan-cancer impact of germline variants (part A)
- Single-cell multi-omics map of human fetal blood in Down syndrome
- In silico RNA isoform screening to identify potential cancer driver exons with therapeutic applications
- Analysis of 10,478 cancer genomes identifies candidate driver genes and opportunities for precision oncology
- Current and new frontiers in hereditary cancer surveillance
- Data privacy in the age of personal genomics
- Nuclear-embedded mitochondrial DNA sequences in 66,083 human genomes
- Specialist multidisciplinary input maximizes rare disease diagnoses from whole genome sequencing
- The person-to-person transmission landscape of the gut and oral microbiomes
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