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Long-read sequencing across the C9orf72 ‘GGGGCC’ repeat expansion: implications for clinical use and genetic discovery efforts in human disease

Many neurodegenerative diseases are caused by nucleotide repeat expansions, but most expansions, like the C9orf72 ‘GGGGCC’ (G4C2) repeat that causes approximately 5–7% of all amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) cases, are too long to sequence using short-read sequencing technologies. It is unclear whether long-read sequencing technologies can...

Correction to: Linkage, whole genome sequence, and biological data implicate variants in RAB10 in Alzheimer’s disease resilience

The original version of this article [1] unfortunately contained a typographical error. The ‘Alzheimer’s Disease Neuroimaging Initiative’ was erroneously included as ‘Alzheimer’s Disease Neuroimaging Initative’ in the author list of the article.

Linkage, whole genome sequence, and biological data implicate variants in RAB10 in Alzheimer’s disease resilience

Arano Craig C. Teerlink Mark T. W. Ebbert Josue D. Gonzalez Murcia James M. Farnham Anna R. Damato Mariet Allen Xue Wang Oscar Harari Victoria M. Fernandez Rita Guerreiro Jose Bras John Hardy Ronald

Genetic Discoveries in AD Using CSF Amyloid and Tau

The use of cerebrospinal fluid (CSF) levels of Aβ42 and Tau phosphorylated at threonine 181 (pTau181) as endophenotypes for genetic studies of Alzheimer’s disease (AD) has led to successful identification of both rare and common AD risk variants. In addition, this approach has provided meaningful hypotheses for the biological mechanisms by which known AD risk variants modulate...

Evolutionary Pressure on Mitochondrial Cytochrome b Is Consistent with a Role of CytbI7T Affecting Longevity during Caloric Restriction

Background Metabolism of energy nutrients by the mitochondrial electron transport chain (ETC) is implicated in the aging process. Polymorphisms in core ETC proteins may have an effect on longevity. Here we investigate the cytochrome b (cytb) polymorphism at amino acid 7 (cytbI7T) that distinguishes human mitochondrial haplogroup H from haplogroup U. Principal Findings We compared...

PAM50 proliferation score as a predictor of weekly paclitaxel benefit in breast cancer

To identify a group of patients who might benefit from the addition of weekly paclitaxel to conventional anthracycline-containing chemotherapy as adjuvant therapy of node-positive operable breast cancer. The predictive value of PAM50 subtypes and the 11-gene proliferation score contained within the PAM50 assay were evaluated in 820 patients from the GEICAM/9906 randomized phase...