RNA-Sequencing of NPC1 cellular models

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尼曼-匹克病C型转录组

临床变异解读

数据链接：

https://www.ncbi.nlm.nih.gov/bioproject/PRJNA580451 数据链接链接失效反馈

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资源简介：

Several haploid models of Niemann-Pick disease type C were generated for the purpose of clinical variant interpretation.

创建时间：

2019-10-30

Additional file 1 of Performance of in silico prediction tools for the classification of rare BRCA1/2 missense variants in clinical diagnostics

癌症遗传变异

临床变异解读

Table S1. List of all variants (n=236) from the Classified Variant Set, including reference, functional impact and number of families affected within the cohort of patients from the German Consortium

Figshare2018-03-27 更新70

MOESM1 of Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

临床变异解读

致病性统计建模

Additional file 1: Odds of Pathogenicity (OddsPath) by performance of classified variant controls. Contains two tables modeling the Odds of Pathogenicity and strength of evidence based on the number o

Figshare2019-12-31 更新40

Additional file 4: Table S3. of Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation

临床变异解读

遗传性癌症与罕见病基因

List of clinically relevant transcripts for hereditary cancer, PCD, and cardiology genes. For each gene examined, a single clinically relevant transcript was selected to make NMD predictions. PCD prim

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Additional file 1: of Challenges imposed by minor reference alleles on the identification and reporting of clinical variants from exome data

临床变异解读

外显子组测序数据分析

ExAC_MRA.xls. Minor reference alleles in ExAC database. (XLS 5024Â kb)

Figshare2018-01-16 更新60

Additional file 1 of Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome

遗传性癌症综合征

临床变异解读

Additional file 1: Table S1. Validation variants used to calculate OddsPath score.

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