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首页> Current issues in molecular biology> 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.

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作者： Teresa,Fazia ^[1] ; Daria,Marzanati ^[1] ; Anna Laura,Carotenuto ^[1] ; Ashley,Beecham ^[2] ; Athena,Hadjixenofontos ^[2] ; Jacob L,McCauley ^[2] ; Valeria,Saddi ^[3] ; Marialuisa,Piras ^[3] ; Luisa,Bernardinelli ^[1] ; Davide,Gentilini ^[4]

作者单位： Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy. ^[1] John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL 33136, USA.;Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, Miami, FL 33136, USA. ^[2] Divisione di Neurologia, Presidio Ospedaliero S. Francesco, ASL Numero 3 Nuoro, 08100 Nuoro, Italy. ^[3] Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy.;Bioinformatics and Statistical Genomics Unit, Istituto Auxologico Italiano IRCCS, 20095 Cusano Milanino, Italy. ^[4]

关键词 Homozygosity Haplotype analysis Region form Common Ancestor (RCA)Sardinian population WES data low-frequency variants multiple sclerosis multiplex families rare variants

主题词等位基因(Alleles);女(雌)性(Female);疾病遗传易感性(Genetic Predisposition to Disease);遗传变异(Genetic Variation);全基因组关联研究(Genome-Wide Association Study);单倍型(Haplotypes);纯合子(Homozygote);人类(Humans);意大利(Italy);男(雄)性(Male);多发性硬化(Multiple Sclerosis);系谱(Pedigree);多态性, 单核苷酸(Polymorphism, Single Nucleotide)

DOI 10.3390/cimb43030125

PMID 34889895

发布时间 2024-08-25

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Current issues in molecular biology

Current issues in molecular biology

2021年43卷3期

1778-1793页

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