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- W2924549674 endingPage "375" @default.
- W2924549674 startingPage "317" @default.
- W2924549674 abstract "The medical and psychosocial challenges faced by patients living with Disorders/Differences of Sex Development (DSD) and their families can be alleviated by a rapid and accurate diagnostic process. Clinical diagnosis of DSD is limited by a lack of standardization of anatomical and endocrine phenotyping and genetic testing, as well as poor genotype/phenotype correlation. Historically, DSD genes have been identified through positional cloning of disease-associated variants segregating in families and validation of candidates in animal and in vitro modeling of variant pathogenicity. Owing to the complexity of conditions grouped under DSD, genome-wide scanning methods are better suited for identifying disease causing gene variant(s) and providing a clinical diagnosis. Here, we review a number of established genomic tools (karyotyping, chromosomal microarrays and exome sequencing) used in clinic for DSD diagnosis, as well as emerging genomic technologies such as whole-genome (short-read) sequencing, long-read sequencing, and optical mapping used for novel DSD gene discovery. These, together with gene expression and epigenetic studies can potentiate the clinical diagnosis of DSD diagnostic rates and enhance the outcomes for patients and families." @default.
- W2924549674 created "2019-04-01" @default.
- W2924549674 creator A5030657919 @default.
- W2924549674 creator A5037264695 @default.
- W2924549674 creator A5038020543 @default.
- W2924549674 creator A5057932992 @default.
- W2924549674 date "2019-01-01" @default.
- W2924549674 modified "2023-10-14" @default.
- W2924549674 title "Translating genomics to the clinical diagnosis of disorders/differences of sex development" @default.
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