Best practices for germline variant and DNA methylation analysis of second- and third-generation sequencing data

Best practices for germline variant and DNA methylation analysis of second- and third-generation sequencing data

Abstract This comprehensive review provides insights and suggested strategies for the analysis of germline variants using second- and third-generation sequencing technologies (SGS and TGS). It addresses the critical stages of data processing, starting from alignment and preprocessing to quality cont...

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Main Authors: Ferdinando Bonfiglio, Andrea Legati, Vito Alessandro Lasorsa, Flavia Palombo, Giulia De Riso, Federica Isidori, Silvia Russo, Simone Furini, Giuseppe Merla, Fabio Coppedè, Marco Tartaglia, Omics Sciences - Bioinformatics and Epigenetics Working Groups of the Italian Society of Human Genetics (SIGU), Alessandro Bruselles, Tommaso Pippucci, Andrea Ciolfi, Michele Pinelli, Mario Capasso
Format: Article
Language:English
Published: BMC 2024-11-01
Series:Human Genomics
Subjects:
Germline variants
DNA methylation
NGS
Hereditary diseases
Bioinformatics
Genetic diagnostics
Online Access:https://doi.org/10.1186/s40246-024-00684-8
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