Modelling and inference reveal nonlinear length-dependent suppression of somatic instability for small disease associated alleles in myotonic dystrophy type 1 and Huntington disease

Journal of the Royal Society Interface

Volumn 10, Issue 88, 2013, Pages

  Higham, Catherine F ^a,b   Monckton, Darren G ^a,b  

^a UNIVERSITY OF GLASGOW   (United Kingdom)

^b UNIVERSITY OF GLASGOW   (United Kingdom)

Author keywords

Huntington disease; Mathematical modelling; Mutation rates; Myotonic dystrophy type 1; Somatic instability; Statistical inference

Indexed keywords

BLOOD; DNA; GENES; MATHEMATICAL MODELS; POSITIVE IONS;

HUMAN GENETIC DISEASE; HUNTINGTON DISEASE; LENGTH DISTRIBUTIONS; MUTATION RATES; MYOTONIC DYSTROPHY; NOVEL APPLICATIONS; QUANTITATIVE TRAITS; STATISTICAL INFERENCE;

STABILITY;

ALLELE; ARTICLE; CALIBRATION; DISEASE COURSE; DNA DETERMINATION; GENE MUTATION; GENE SEQUENCE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUNTINGTON CHOREA; MATHEMATICAL MODEL; MOSAICISM; MYOTONIC DYSTROPHY; SOMATIC MUTATION; TANDEM REPEAT; ADULT; AGE; AGED; BIOLOGICAL MODEL; COHORT ANALYSIS; FEMALE; GENETIC ASSOCIATION; GENETICS; GENOMIC INSTABILITY; MALE; MIDDLE AGED; QUANTITATIVE TRAIT; TRINUCLEOTIDE REPEAT; MATHEMATICAL MODELLING; MUTATION RATES; SOMATIC INSTABILITY; STATISTICAL INFERENCE;

ADULT; AGE FACTORS; AGED; ALLELES; COHORT STUDIES; FEMALE; GENETIC ASSOCIATION STUDIES; GENOMIC INSTABILITY; HUMANS; HUNTINGTON DISEASE; MALE; MIDDLE AGED; MODELS, GENETIC; MYOTONIC DYSTROPHY; QUANTITATIVE TRAIT, HERITABLE; TRINUCLEOTIDE REPEATS;

HUNTINGTON DISEASE; MATHEMATICAL MODELLING; MUTATION RATES; MYOTONIC DYSTROPHY TYPE 1; SOMATIC INSTABILITY; STATISTICAL INFERENCE;

EID: 84896692258     PISSN: 17425689     EISSN: 17425662     Source Type: Journal    
DOI: 10.1098/rsif.2013.0605     Document Type: Article

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