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DECIPHER: Supporting the interpretation and sharing of rare disease phenotype-linked variant data to advance diagnosis and research.
Foreman, Julia; Brent, Simon; Perrett, Daniel; Bevan, Andrew P; Hunt, Sarah E; Cunningham, Fiona; Hurles, Matthew E; Firth, Helen V.
Affiliation
  • Foreman J; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Cambridge, UK.
  • Brent S; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Cambridge, UK.
  • Perrett D; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Cambridge, UK.
  • Bevan AP; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Cambridge, UK.
  • Hunt SE; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Cambridge, UK.
  • Cunningham F; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Cambridge, UK.
  • Hurles ME; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Cambridge, UK.
  • Firth HV; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Cambridge, UK.
Hum Mutat ; 43(6): 682-697, 2022 06.
Article in En | MEDLINE | ID: mdl-35143074
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Databases, Genetic / Rare Diseases Type of study: Diagnostic_studies / Guideline Limits: Humans Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2022 Document type: Article Affiliation country: United kingdom
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Databases, Genetic / Rare Diseases Type of study: Diagnostic_studies / Guideline Limits: Humans Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2022 Document type: Article Affiliation country: United kingdom