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Author Details
Full Name
Daniel Perrett
Affiliation
European Bioinformatics Institute
ORCID
Career Start Year
2015
Papers
6
H Index
3
Expertise
CM4AI Collaborator
PMID
Paper Title
Journal Title
Published Year
37982373
Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms.
Genet Med
2024
37066232
Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms.
medRxiv
2023
37285546
DECIPHER: Improving Genetic Diagnosis Through Dynamic Integration of Genomic and Clinical Data.
Annu Rev Genomics Hum Genet
2023
35143074
DECIPHER: Supporting the interpretation and sharing of rare disease phenotype-linked variant data to advance diagnosis and research.
Hum Mutat
2022
30069064
Registered access: authorizing data access.
Eur J Hum Genet
2018
26220709
Facilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHER.
Hum Mutat
2015
1 - 6 of 6
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