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- W3088571285 endingPage "475" @default.
- W3088571285 startingPage "475" @default.
- W3088571285 abstract "Next generation sequencing is currently a cornerstone of genetic testing in routine diagnostics, allowing for the detection of sequence variants with so far unprecedented large scale, mainly in genetically heterogenous diseases, such as neurological disorders. It is a fast-moving field, where new wet enrichment protocols and bioinformatics tools are constantly being developed to overcome initial limitations. Despite the as yet undiscussed advantages, however, there are still some challenges in data analysis and the interpretation of variants. In this review, we address the current state of next generation sequencing diagnostic testing for inherited human disorders, particularly giving an overview of the available high-throughput sequencing approaches; including targeted, whole-exome and whole-genome sequencing; and discussing the main critical aspects of the bioinformatic process, from raw data analysis to molecular diagnosis." @default.
- W3088571285 created "2020-10-01" @default.
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- W3088571285 creator A5048493277 @default.
- W3088571285 creator A5080993076 @default.
- W3088571285 creator A5089224806 @default.
- W3088571285 date "2021-01-01" @default.
- W3088571285 modified "2023-10-16" @default.
- W3088571285 title "Current scenario of the genetic testing for rare neurological disorders exploiting next generation sequencing" @default.
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- W3088571285 doi "https://doi.org/10.4103/1673-5374.293135" @default.
- W3088571285 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7996035" @default.
- W3088571285 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/32985468" @default.
- W3088571285 hasPublicationYear "2021" @default.
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