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A weighted burden test using logistic regression for integrated analysis of sequence variants, copy number variants and polygenic risk score.
Previously described methods of analysis allow variants in a gene to be weighted more highly according to rarity and/or predicted function and then for the variant contributions to be summed into a gene-wise risk score, ...
Pursuing parity: genetic tests for psychiatric conditions in the UK National Health Service.
SummarySchizophrenia and anorexia nervosa were recently added to the list of conditions for which whole genome sequencing might be indicated as part of the 100 000 Genomes Project, reflecting the remarkable recent progress ...
Clinical relevance of genome-wide polygenic score may be less than claimed.
OBJECTIVES: A recent study claimed that genome-wide polygenic scores (GPSs) for five common diseases could identify individuals with risk equivalent to monogenic mutations. Receiver operator curve analyses were reported ...
Genetic association and functional characterization of MCPH1 gene variation in bipolar disorder and schizophrenia.
A rare microcephalin 1 gene (MCPH1) variant rs61749465A>G (p.Asp61Gly) with prior evidence for association with schizophrenia (p = 3.78 × 10-7 ) was tested for association in 2,300 bipolar disorder (BPD) participants, 1,930 ...
Genome-wide association study identifies 30 loci associated with bipolar disorder.
(Springer Nature, 2019-05-01)
Bipolar disorder is a highly heritable psychiatric disorder. We performed a genome-wide association study (GWAS) including 20,352 cases and 31,358 controls of European descent, with follow-up analysis of 822 variants with ...