Homozygosity Haplotype and Whole-Exome Sequencing Analysis to Identify Potentially Functional Rare Variants Involved in Multiple Sclerosis among Sardinian Families

Homozygosity Haplotype and Whole-Exome Sequencing Analysis to Identify Potentially Functional Rare Variants Involved in Multiple Sclerosis among Sardinian Families

Multiple Sclerosis (MS) is a complex multifactorial autoimmune disease, whose sex- and age-adjusted prevalence in Sardinia (Italy) is among the highest worldwide. To date, 233 loci were associated with MS and almost 20% of risk heritability is attributable to common genetic variants, but many low-fr...

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Bibliographic Details
Main Authors: Teresa Fazia, Daria Marzanati, Anna Laura Carotenuto, Ashley Beecham, Athena Hadjixenofontos, Jacob L. McCauley, Valeria Saddi, Marialuisa Piras, Luisa Bernardinelli, Davide Gentilini
Format: Article
Language:English
Published: MDPI AG 2021-10-01
Series:Current Issues in Molecular Biology
Subjects:
multiplex families
Sardinian population
WES data
rare variants
low-frequency variants
Homozygosity Haplotype analysis
Online Access:https://www.mdpi.com/1467-3045/43/3/125

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