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claymcleod
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Oct 29, 2025
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| **DAU**: CReATe | **Tissue Type**: PBMC germline DNA | **Sequencing Type**: WGS | **Samples**: 705 | ||
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| The Phenotype-Genotype-Biomarker (PGB, or PGB1) study (NCT02327845) of the Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium was a natural history and biomarker study of patients with amyotrophic lateral sclerosis (ALS) or a related disorder, including but not limited to ALS-frontotemporal dementia (ALS-FTD), progressive muscular atrophy (PMA), primary lateral sclerosis (PLS), hereditary spastic paraplegia (HSP), and multisystem proteinopathy (MSP). In addition to patients enrolled in the PGB1 Cohort (primary participants), the study also enrolled family members for limited data collection (secondary participants). This dataset includes WGS data from N=705 in PGB1, including N=472 ALS/ALS-FTD, N=20 PMA, N=47 PLS, N=162 HSP, and N=4 with other related disorders. |
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We should add a sentence at the end saying "the findings of the project were published in ..."
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Sounds good - but for now, the publication is in progress/hasn't yet been released.
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Scratch that - was published today! https://translationalneurodegeneration.biomedcentral.com/articles/10.1186/s40035-025-00516-2
haleygreenwell
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Oct 29, 2025
claymcleod
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Oct 29, 2025
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One small nit. The code follows a 1 sentence per line paradigm. I'd like to see that consistency throughout.
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| **DAU**: CReATe | **Tissue Type**: PBMC germline DNA | **Sequencing Type**: WGS | **Samples**: 705 | ||
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| The Phenotype-Genotype-Biomarker (PGB, or PGB1) study (NCT02327845) of the Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium was a natural history and biomarker study of patients with amyotrophic lateral sclerosis (ALS) or a related disorder, including but not limited to ALS-frontotemporal dementia (ALS-FTD), progressive muscular atrophy (PMA), primary lateral sclerosis (PLS), hereditary spastic paraplegia (HSP), and multisystem proteinopathy (MSP). In addition to patients enrolled in the PGB1 Cohort (primary participants), the study also enrolled family members for limited data collection (secondary participants). This dataset includes WGS data from N=705 in PGB1, including N=472 ALS/ALS-FTD, N=20 PMA, N=47 PLS, N=162 HSP, and N=4 with other related disorders. The findings of the project were published in [Translational Neurodegeneration](https://translationalneurodegeneration.biomedcentral.com/articles/10.1186/s40035-025-00516-2). |
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nit: The code is following the 1 sentence per line paradigm.
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@kevin-benton - @haleygreenwell made the revisions for the 1 sentence per line paradigm.
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Added the CReATe dataset, DAU, S1
Just review, don't merge!
WAIT - DAU is not yet ready.