Long read sequencing on its way to the routine diagnostics of genetic diseases

Long read sequencing on its way to the routine diagnostics of genetic diseases

The clinical application of technological progress in the identification of DNA alterations has always led to improvements of diagnostic yields in genetic medicine. At chromosome side, from cytogenetic techniques evaluating number and gross structural defects to genomic microarrays detecting cryptic...

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Bibliographic Details
Main Authors:	Giulia Olivucci, Emanuela Iovino, Giovanni Innella, Daniela Turchetti, Tommaso Pippucci, Pamela Magini
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2024-03-01
Series:	Frontiers in Genetics
Subjects:	long read sequencing molecular diagnosis genetic diseases structural variants tandem repeats single nucleotide variants
Online Access:	https://www.frontiersin.org/articles/10.3389/fgene.2024.1374860/full

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