Next generation sequencing and rare genetic variants: From human population studies to medical genetics

Environmental and Molecular Mutagenesis

Volumn 54, Issue 7, 2013, Pages 518-532

  Matullo, Giuseppe ^a,b   Gaetano, Cornelia Di ^a,b   Guarrera, Simonetta ^b  

^a UNIVERSITY OF TURIN   (Italy)

^b Human Genetics Foundation   (Italy)

Author keywords

Next generation sequencing; Rare variants; Whole exome sequencing; Whole genome sequencing

Indexed keywords

ALLELE; COPY NUMBER VARIATION; DISEASE PREDISPOSITION; DNA METHYLATION; EXOME; GENE FREQUENCY; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC EPIDEMIOLOGY; GENETIC HETEROGENEITY; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HISTONE MODIFICATION; HUMAN GENOME; MEDICAL GENETICS; NEXT GENERATION SEQUENCING; PATIENT; PERSONALIZED MEDICINE; PHARMACOGENETICS; PHENOTYPE; POINT MUTATION; POPULATION DIFFERENTIATION; POPULATION RESEARCH; PROGNOSIS; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; SOMATIC MUTATION; UNTRANSLATED REGION;

NEXT-GENERATION SEQUENCING; RARE VARIANTS; WHOLE-EXOME SEQUENCING; WHOLE-GENOME SEQUENCING;

EVOLUTION, MOLECULAR; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; GENETICS, MEDICAL; HUMANS;

EID: 84882242146     PISSN: 08936692     EISSN: 10982280     Source Type: Journal    
DOI: 10.1002/em.21799     Document Type: Review

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