Data files for manuscript "Re-evaluation and Re-analysis of 152 research exomes five years after the initial report reveals clinically relevant changes in 20%"
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#2022-09-231<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 20%". <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> 732145e9e7bb3547595da122ed4eb539 ./FileS2_conNDD-cohort.xlsx<br> a054334637b8b22a9bf743db1e348663 ./FileS3_conNDD-variants.xlsx<br>
#2022-09-231 # 摘要 本压缩包包含用于论文《初始报告发布五年后对152例研究外显子组的重新评估与再分析揭示20%的样本存在临床相关变化》中所有分析工作的数据文件。 # 文件结构 README.txt：本自述文件。 文件S02（FileS2_conNDD-cohort.xlsx）：收录Reuter等人此前鉴定的全部变异，以及本项目重新评估的变异与新增变异，同时附带本项目所评估的家系、个体、样本及BAM文件（Binary Alignment Map）的相关信息。 文件S03（FileS3_conNDD-variants.xlsx）：收录本队列分析所用的全部变异数据，包含以下多个工作表：用于存储变异效应预测所用的in silico（计算机模拟）预测工具阈值的工作表；全外显子组范围纯合变异表，分为A45、LGD（Loss of Function Variant）、错义（Missense）、剪接（Splice）4个类别；全外显子组范围变异表，分为上述4个类别，且针对SysID数据库中与神经发育障碍相关的显性基因（Prime与候选列表）进行了过滤；全外显子组范围变异表，分为上述4个类别，且针对SysID数据库中与神经发育障碍相关的隐性基因（Prime与候选列表）进行了过滤；本队列的拷贝数（CN，Copy Number）呼叫结果表；纯合性连续区域（RoH，Runs of Homozygosity）呼叫结果表。 # 文件与校验和 732145e9e7bb3547595da122ed4eb539 ./FileS2_conNDD-cohort.xlsx a054334637b8b22a9bf743db1e348663 ./FileS3_conNDD-variants.xlsx
