Current scenario of the genetic testing for rare neurological disorders exploiting next generation sequencing
Chiara Di Resta1
Giovanni Battista Pipitone2
Paola Carrera3
Maurizio Ferrari4
1.Vita-Salute San Raffaele University, Milan, Italy;Unit of Genomics for Human Disease Diagnosis, Division of Genetics and Cell Biology, IRCCS San Raffaele Scientific Institute, Milan, Italy2.Clinical Molecular Biology Laboratory, IRCCS San Raffaele Hospital, Milan, Italy3.Unit of Genomics for Human Disease Diagnosis, Division of Genetics and Cell Biology, IRCCS San Raffaele Scientific Institute, Milan, Italy;Clinical Molecular Biology Laboratory, IRCCS San Raffaele Hospital, Milan, Italy4.Vita-Salute San Raffaele University, Milan, Italy;Unit of Genomics for Human Disease Diagnosis, Division of Genetics and Cell Biology, IRCCS San Raffaele Scientific Institute, Milan, Italy;Clinical Molecular Biology Laboratory, IRCCS San Raffaele Hospital, Milan, Italy
摘要：Next generation sequencing is currently a cornerstone of genetic testing in routinediagnostics, 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.
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论文发表日期：2021-03-28
在线出版日期：2025-08-15（本平台首次上网日期，不代表文献的发表时间）
页数：7( 475-481 )
英文信息