TY  - JOUR
AU  - Amanat, Sana
AU  - Requena, Teresa
AU  - Lopez-Escamez, Jose Antonio
PY  - 2020
DO  - 10.3390/genes11090987
UR  - http://hdl.handle.net/10668/3528
T2  - Genes
AB  - Exome sequencing has been commonly used to characterize rare diseases by selecting multiplex families or singletons with an extreme phenotype (EP) and searching for rare variants in coding regions. The EP strategy covers both extreme ends of a disease...
LA  - en
PB  - MDPI
KW  - Genetic epidemiology
KW  - Genetic association studies
KW  - Extreme phenotype
KW  - Exome sequencing
KW  - Tinnitus
KW  - Epidemiología molecular
KW  - Estudios de asociación genética
KW  - Secuenciación del exoma completo
KW  - Acúfeno
KW  - Medical Subject Headings::Diseases
KW  - Medical Subject Headings::Diseases::Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Disease Susceptibility::Genetic Predisposition to Disease
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation
KW  - Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Phenotype
KW  - Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Molecular Epidemiology
KW  - Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Genetic Association Studies
KW  - Medical Subject Headings::Diseases::Otorhinolaryngologic Diseases::Ear Diseases::Hearing Disorders::Tinnitus
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Exome
KW  - Medical Subject Headings::Diseases::Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Rare Diseases
KW  - Medical Subject Headings::Diseases::Otorhinolaryngologic Diseases::Ear Diseases::Hearing Disorders::Hearing Loss
TI  - A Systematic Review of Extreme Phenotype Strategies to Search for Rare Variants in Genetic Studies of Complex Disorders
TY  - review article
ER  -