--- title: "Erasmus Rucphen Family (ERF)" id: "945" type: "cohort" slug: "erasmus-rucphen-family-erf" published_at: "2019-06-19T16:25:36+00:00" modified_at: "2024-10-23T16:52:01+00:00" url: "https://dss.niagads.org/cohorts/erasmus-rucphen-family-erf/" markdown_url: "https://dss.niagads.org/cohorts/erasmus-rucphen-family-erf.md" excerpt: "A family-based cohort study that is embedded in the Genetic Research in Isolated Populations (GRIP) program in the South West of the Netherlands. The aim of this program was to identify genetic risk factors in the development of complex disorders...." taxonomy_cohort_categories: - "ADSP" taxonomy_cohort_countries: - "Netherlands" --- Website: [https://www.neurodegenerationresearch.eu/cohort/erasmus-rucphen-family-study/](https://www.neurodegenerationresearch.eu/cohort/erasmus-rucphen-family-study/) ## Description A family-based cohort study that is embedded in the Genetic Research in Isolated Populations (GRIP) program in the South West of the Netherlands. The aim of this program was to identify genetic risk factors in the development of complex disorders. For the Erasmus Rucphen Family Study (ERF), 22 families that had at least five children baptized in the community church between 1850-1900 were identified with the help of genealogical records. All living descendants of these couples and their spouses were invited to take part in the study. Data collection started in June 2002 and was finished in February 2005 (n=2065). ## Related Datasets - [NG00067 – ADSP Umbrella](https://dss.niagads.org/datasets/ng00067/) This dataset includes sequencing data and harmonized phenotypes from cohorts sequenced by the Alzheimer’s Disease Sequencing Project and other AD and Related Dementia’s studies. Samples are processed using a common… [Learn more](https://dss.niagads.org/datasets/ng00067/) - [NG00116 – Resolving Mutations in Challenging Genomic Regions to Test Association with Disease Phenotypes](https://dss.niagads.org/datasets/ng00116/) Many regions of the human genome present challenges that prohibit scientists from discovering potential disease-causing mutations. We developed methods to characterize mutations in these regions to rescue mutations that are… [Learn more](https://dss.niagads.org/datasets/ng00116/) - [NG00176-CNVs from ADSP WES data using CANOES software](https://dss.niagads.org/datasets/ng00176/) This dataset contains Copy Number Variation (CNV) calling from the Whole Exome Sequencing (WES) from multiple distinct Alzheimer Disease (AD) sequencing projects: both discovery and replication ADSP family dataset, ADSP… [Learn more](https://dss.niagads.org/datasets/ng00176/) - [NG00196- Genotyping short tandem repeats using the ADSP R4 cohort](https://dss.niagads.org/datasets/ng00196/) A two-step pipeline was used to first identify expanded short tandem repeats (STRs) in ADSP samples using ExpansionHunter Denovo and then genotype the identified STRs, along with additional polymorphic STRs… [Learn more](https://dss.niagads.org/datasets/ng00196/) ## Related Studies - [sa000001 - Alzheimer’s Disease Sequencing Project (ADSP)](https://dss.niagads.org/studies/sa000001/) Background An initiative in response to the National Alzheimer’s Project Act (NAPA) has been working towards new biological insights and cures for Alzheimer’s Disease (AD) since its introduction by NIH… [Learn more](https://dss.niagads.org/studies/sa000001/) - [sa000081 - Extremely Rare CNVs and Alzheimer’s Disease Risk: Analysis of ADSP WES Data](https://dss.niagads.org/studies/sa000081/) The purpose of this study is to find new Alzheimer related variants and genes, by combining exome data from healthy controls and Alzheimer patients from different studies. CNV calling was… [Learn more](https://dss.niagads.org/studies/sa000081/) - [sa000087 - Genotyping short tandem repeats using ADSP R4](https://dss.niagads.org/studies/sa000087/) Variation in tandem repeats (TRs), particularly large expansions of triplet repeats (e.g., polyCAG), is known to cause a number of late-onset neurological diseases. Due to their repetitive and degenerate nature,… [Learn more](https://dss.niagads.org/studies/sa000087/) - [sa000042 - Resolving mutations in challenging genomic regions to test association with disease phenotypes](https://dss.niagads.org/studies/sa000042/) Many regions of the human genome present challenges that prohibit scientists from discovering potential disease causing mutations. We developed methods to characterize mutations in these regions to rescue mutations that… [Learn more](https://dss.niagads.org/studies/sa000042/) ## Related Sample Sets - [snd10000 - ADSP Discovery](https://dss.niagads.org/sample-sets/snd10000/) The initial phase of the ADSP research plan is called the Discovery Phase. Samples were selected from well-characterized study cohorts of individuals with or without an AD diagnosis and the… [Learn more](https://dss.niagads.org/sample-sets/snd10000/) - [snd10001 - ADSP Extension](https://dss.niagads.org/sample-sets/snd10001/) The ADSP Discovery Family-Based Extension Study: To further assess the genomes in multiply affected families, under funding provided by NHGRI, an additional 427 samples were whole genome sequenced. This included… [Learn more](https://dss.niagads.org/sample-sets/snd10001/) - [snd10074 - Camouflaged Variants](https://dss.niagads.org/sample-sets/snd10074/) Provided here are variant calls in VCF format for 14,526 samples derived from the ADSP whole-exome and whole-genome sequencing dataset (available via DSS: NG00067). [Learn more](https://dss.niagads.org/sample-sets/snd10074/) - [snd10139 - CNV Calling from ADSP Whole-Exome Sequencing (WES) Data](https://dss.niagads.org/sample-sets/snd10139/) This dataset comprises CNV calls from Whole Exome Sequencing (WES) across multiple distinct Alzheimer’s Disease (AD) sequencing projects, including the discovery and replication ADSP family datasets, the ADSP case-control dataset,… [Learn more](https://dss.niagads.org/sample-sets/snd10139/) - [snd10147 - ADSP R4 Short Tandem Repeats (STRs)](https://dss.niagads.org/sample-sets/snd10147/) This dataset comprises short tandem repeat (STR) genotypes from 31,681 whole-genome sequencing (WGS) samples from the ADSP R4 data release. The STRs were genotyped using ExpansionHunter with a custom catalog… [Learn more](https://dss.niagads.org/sample-sets/snd10147/) ```