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feat: news item - CARD Consortia (#2782) #2798

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Original file line number Diff line number Diff line change
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---
author: "AnVIL"
date: "2023-03-17"
description: "CARD has now released its first set of long-read DNA sequencing data from cell lines and brain tissue samples useful in the study of neurodegenerative disease."
featured: true
title: "Data Release - CARD-Dementia Long Read Project"
---

# Data Release - CARD-Dementia Long Read Project

Long-read DNA sequencing, which sequences genomes in larger segments than traditional short-read sequencing does, is
providing more detailed views of genetic variants associated with disease. The NIH Center for Alzheimer's and Related
Dementias (CARD) is
using [long-read sequencing technologies](https://card.nih.gov/research-programs/long-read-sequencing) to uncover more
of the genetic architecture of Alzheimer's disease and related dementias (AD/ADRD).

CARD has now released its first set of long-read DNA sequencing data from cell lines and brain tissue samples useful in
the study of neurodegenerative disease. This data release includes nanopore data from 14 frontal cortex brain samples
from a North American Brain Expression Consortium study (NABEC, dbGaP:phs001300) and three commonly used cell lines (
HG002, HG00733, and HG02723, dbGaP:phs003224).

In addition to raw sequencing data, CARD researchers are developing and publishing wet lab protocols, workflows, and
computational pipelines to optimize the extraction of long DNA fragments from tissue samples and assemble final
sequences with extreme accuracy. CARD-developed computational workflows for long-read sequencing analysis can also
differentiate maternal and paternal chromosomes (phased sequencing) and detect DNA methylation patterns. These workflows
are described [here](https://doi.org/10.1101/2023.01.12.523790) and can be found
on [Dockstore](https://dockstore.org/) [here](https://dockstore.org/organizations/NIHCARD). Additional information can
be found in the preprint [Scalable Nanopore sequencing of human genomes provides a comprehensive view of
haplotype-resolved variation and methylation](https://pubmed.ncbi.nlm.nih.gov/36711673/).

CARD aims to build a framework for the large-scale application of Oxford nanopore sequencing while filling knowledge
gaps about genomic variation in Alzheimer’s disease and other neurological disorders. CARD makes its long-read
sequencing data, protocols, and
pipelines [open access for other researchers](https://card.nih.gov/data-resources/access-data). CARD’s cell line data is
available without
limitations on the [AnVIL portal](/), while the brain data is available after dbGaP registration. Future releases will
include long-read sequencing data from thousands of healthy and disease-affected brain samples.

*CARD is a collaboration between the National Institute of Neurological Disorders and Stroke (NINDS) and the National
Institute on Aging (NIA). Learn more about CARD’s long-read sequencing efforts for
AD/ADRD [here](https://www.genomeweb.com/sequencing/nih-researchers-deploy-nanopore-sequencing-large-scale-alzheimers-study#.ZBRJZuyZPjn)
and [here](https://card.nih.gov/research-programs/long-read-sequencing).*

*The CARD long-read consortium includes researchers from National Institute on Aging, UC Santa Cruz Genomics Institute,
National Cancer Institute, National Human Genome Research Institute, Baylor College of Medicine, Johns Hopkins
University, University of Southern California and Northeastern University College of engineering.*
104 changes: 104 additions & 0 deletions content/news/2023/05/08/data-management-1000-genomes.md
Original file line number Diff line number Diff line change
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---
author: "AnVIL"
date: "2023-05-08"
description: "We’re writing to inform you of a data management incident which led to a temporary unavailability of a limited number of files hosted in the 1000G-high-coverage-2019 workspace from March 8, 2023 to May 8, 2023."
featured: true
title: "Reporting Temporary Data Unavailability for 1000 Genomes"
---

# Reporting Temporary Data Unavailability for 1000 Genomes

We’re writing to inform you of a data management incident which led to a temporary unavailability of a limited number of
files hosted in the 1000G-high-coverage-2019 workspace from March 8, 2023 to May 8, 2023. Below is the list of files
that were impacted during this time period; these files have been restored as of May 8, 2023.

`HG00257.final.cram`

`HG00369.final.cram`

`HG00657.final.cram`

`HG00684.final.cram`

`HG01079.final.cram`

`HG01110.final.cram`

`HG01122.final.cram`

`HG01491.final.cram`

`HG01697.final.cram`

`HG01777.final.cram`

`HG01976.final.cram`

`HG02164.final.cram`

`HG02312.final.cram`

`HG02380.final.cram`

`HG02512.final.cram`

`HG02557.final.cram`

`HG02681.final.cram`

`HG02769.final.cram`

`HG03063.final.cram`

`HG03563.final.cram`

`HG03844.final.cram`

`HG03898.final.cram`

`HG03937.final.cram`

`HG04141.final.cram`

`NA18912.final.cram`

`NA19060.final.cram`

`NA19238.final.cram`

`NA19360.final.cram`

`NA19474.final.cram`

`NA20790.final.cram`

`NA21126.final.cram`

`HG00408.final.cram`

`HG00639.final.cram`

`HG01096.final.cram`

`HG01529.final.cram`

`HG02821.final.cram`

`HG03047.final.cram`

`HG03487.final.cram`

`NA18487.final.cram`

`NA18500.final.cram`

`NA20279.final.cram`

`HG01141.haplotypeCalls.er.raw.vcf.gz`

`NA10830.haplotypeCalls.er.raw.vcf.gz`

`NA18863.haplotypeCalls.er.raw.vcf.gz`

If you have any questions about this incident, please reach out to us
at [[email protected]](mailto:[email protected]).
6 changes: 6 additions & 0 deletions content/site-map.yaml
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Expand Up @@ -559,6 +559,12 @@
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file: "/news/2023/05/09/data-management-anvil-hprc"
pathOverride: "/news/2023/05/09/data-management-anvil-hprc"
- name: ""
file: "/news/2023/05/08/data-management-1000-genomes"
pathOverride: "/news/2023/05/08/data-management-1000-genomes"
- name: ""
file: "/news/2023/03/17/data-release-card-dementia-long-read-project"
pathOverride: "/news/2023/03/17/data-release-card-dementia-long-read-project"
- name: ""
file: "/news/2023/03/17/data-release-telomere-to-telomere"
pathOverride: "/news/2023/03/17/data-release-telomere-to-telomere"
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