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Mutation intolerant genes and targets of FMRP are enriched for nonsynonymous alleles in schizophrenia.
Risk of schizophrenia is conferred by alleles occurring across the full spectrum of frequencies from common SNPs of weak effect through to ultra rare alleles, some of which may be moderately to highly penetrant. Previous ...
Approaches to the detection of recessive effects using next generation sequencing data from outbred populations.
Conventional methods to analyze genome-wide association studies and whole exome or whole genome sequencing studies would be prone to overlook variants which might exert a recessive effect on risk of disease, either as ...