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<br> #Summary<br> 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%". <br> #File structure<br> README.txt This README file.<br> File S02 ("FileS2_conNDD-cohort.xlsx") All variants identified by Reuter et al. previously with reevaluated variants and addition variants identified in this <br> project togetehr with information about the families, individuals, samplesand the BAM files assessed in this project.<br> 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, <br> 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)<br> 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<br> 29c4b2f3dd8985d268f50dd3e0265798 ./FileS2_conNDD-cohort.xlsx<br> a054334637b8b22a9bf743db1e348663 ./FileS3_conNDD-variants.xlsx<br>