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ZENODO
Dataset . 2022
License: CC BY
Data sources: Datacite
image/svg+xml art designer at PLoS, modified by Wikipedia users Nina, Beao, JakobVoss, and AnonMoos Open Access logo, converted into svg, designed by PLoS. This version with transparent background. http://commons.wikimedia.org/wiki/File:Open_Access_logo_PLoS_white.svg art designer at PLoS, modified by Wikipedia users Nina, Beao, JakobVoss, and AnonMoos http://www.plos.org/
ZENODO
Dataset . 2022
License: CC BY
Data sources: Datacite
image/svg+xml art designer at PLoS, modified by Wikipedia users Nina, Beao, JakobVoss, and AnonMoos Open Access logo, converted into svg, designed by PLoS. This version with transparent background. http://commons.wikimedia.org/wiki/File:Open_Access_logo_PLoS_white.svg art designer at PLoS, modified by Wikipedia users Nina, Beao, JakobVoss, and AnonMoos http://www.plos.org/
ZENODO
Dataset . 2022
License: CC BY
Data sources: ZENODO
image/svg+xml art designer at PLoS, modified by Wikipedia users Nina, Beao, JakobVoss, and AnonMoos Open Access logo, converted into svg, designed by PLoS. This version with transparent background. http://commons.wikimedia.org/wiki/File:Open_Access_logo_PLoS_white.svg art designer at PLoS, modified by Wikipedia users Nina, Beao, JakobVoss, and AnonMoos http://www.plos.org/
ZENODO
Dataset . 2022
License: CC BY
Data sources: Datacite
image/svg+xml art designer at PLoS, modified by Wikipedia users Nina, Beao, JakobVoss, and AnonMoos Open Access logo, converted into svg, designed by PLoS. This version with transparent background. http://commons.wikimedia.org/wiki/File:Open_Access_logo_PLoS_white.svg art designer at PLoS, modified by Wikipedia users Nina, Beao, JakobVoss, and AnonMoos http://www.plos.org/
ZENODO
Dataset . 2022
License: CC BY
Data sources: ZENODO
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Data files for manuscript "Re-evaluation and Re-analysis of 152 research exomes five years after the initial report reveals clinically relevant changes in 18%"

Authors: Popp, Bernt; Bartolomaeus, Tobias;

Data files for manuscript "Re-evaluation and Re-analysis of 152 research exomes five years after the initial report reveals clinically relevant changes in 18%"

Abstract

#2023-06-16 #Summary This ZIP-file contains the data files used for all analyses for the manuscript "Re-evaluation and Re-analysis of 152 research exomes five years after the initial report reveals clinically relevant changes in 18%". #File structure README.txt This README file. File S02 ("FileS2_conNDD-cohort.xlsx") All variants identified by Reuter et al. previously with reevaluated variants and addition variants identified in this project togetehr with information about the families, individuals, samplesand the BAM files assessed in this project. File S03 ("FileS3_conNDD-variants.xlsx") All variant data analyzed from the cohort. Including a sheet with thresholdes for in silico predictions tools used to predict effect of variants, a table with exome wide homozygous variants in 4 categories (A45, LGD, Missense, Splice), a table with exome wide variants in 4 categories (A45, LGD, Missense, Splice) filtered for domiant genes associated with neurodevelopmental disorders in SysID (Prime and Candidate list), a table with exome wide variants in 4 categories (A45, LGD, Missense, Splice) filtered for recessive genes associated with neurodevelopmental disorders in SysID (Prime and Candidate list), a table withcopy number (CN) calls for the cohort and a table withcalls for runs of homozygosity (RoH) regions. #Files and checksums 29c4b2f3dd8985d268f50dd3e0265798 ./FileS2_conNDD-cohort.xlsx a054334637b8b22a9bf743db1e348663 ./FileS3_conNDD-variants.xlsx

Related Organizations
Keywords

neurodevelopmental disorder, re-evaluation, re-analysis, consanguinity, exome

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selected citations
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This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
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popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
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influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
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impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
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