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%"

#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