Title |
Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort
|
---|---|
Published in |
Alzheimer's Research & Therapy, August 2012
|
DOI | 10.1186/alzrt137 |
Pubmed ID | |
Authors |
Sheng Chih Jin, Pau Pastor, Breanna Cooper, Sebastian Cervantes, Bruno A Benitez, Cristina Razquin, Alison Goate, Ibero-American Alzheimer Disease Genetics Group Researchers, Carlos Cruchaga |
Abstract |
Some familial Alzheimer's disease (AD) cases are caused by rare and highly-penetrant mutations in APP, PSEN1, and PSEN2. Mutations in GRN and MAPT, two genes associated with frontotemporal dementia (FTD), have been found in clinically diagnosed AD cases. Due to the dramatic developments in next-generation sequencing (NGS), high-throughput sequencing of targeted genomic regions of the human genome in many individuals in a single run is now cheap and feasible. Recent findings favor the rare variant-common disease hypothesis by which the combination effects of rare variants could explain a large proportion of the heritability. We utilized NGS to identify rare and pathogenic variants in APP, PSEN1, PSEN2, GRN, and MAPT in an Ibero-American cohort. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United Kingdom | 1 | 100% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Colombia | 1 | 1% |
United States | 1 | 1% |
Unknown | 97 | 98% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 25 | 25% |
Student > Ph. D. Student | 23 | 23% |
Student > Doctoral Student | 8 | 8% |
Student > Bachelor | 8 | 8% |
Other | 5 | 5% |
Other | 18 | 18% |
Unknown | 12 | 12% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 26 | 26% |
Biochemistry, Genetics and Molecular Biology | 19 | 19% |
Medicine and Dentistry | 14 | 14% |
Neuroscience | 14 | 14% |
Computer Science | 3 | 3% |
Other | 10 | 10% |
Unknown | 13 | 13% |