TY  - GEN
AU  - Díaz-Santiago, Elena
AU  - Jabato, Fernando M
AU  - Rojano, Elena
AU  - Seoane, Pedro
AU  - Pazos, Florencio
AU  - Perkins, James R
AU  - Ranea, Juan A G
PY  - 2020
DO  - 10.1371/journal.pgen.1009054
UR  - http://hdl.handle.net/20.500.12105/18130
AB  - Genetic and molecular analysis of rare disease is made difficult by the small numbers of affected patients. Phenotypic comorbidity analysis can help rectify this by combining information from individuals with similar phenotypes and looking for overlap...
LA  - eng
KW  - Comorbidity
KW  - DNA Copy Number Variations
KW  - Databases, Genetic
KW  - Genetic Association Studies
KW  - Genetic Predisposition to Disease
KW  - Genome, Human
KW  - Genomics
KW  - Genotype
KW  - Humans
KW  - Mutation
KW  - Phenotype
KW  - Rare Diseases
TI  - Phenotype-genotype comorbidity analysis of patients with rare disorders provides insight into their pathological and molecular bases.
TY  - research article
ER  -