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Evaluation of prediction tools on real clinical exomes from the MyoCapture project.

NIAID Data Ecosystem2026-03-11 收录

数据链接：

https://figshare.com/articles/dataset/Evaluation_of_prediction_tools_on_real_clinical_exomes_from_the_MyoCapture_project_/12747851 数据链接链接失效反馈

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The best performances are in bold. (XLSX)

应用场景：

创建时间：

2020-07-31

分子尸检

遗传变异致病性

Additional file 1: Supplementary Table S1. Table S1: Details of clinical and molecular findings of the study cases. No OMIM phenotype*: Phenotype is not listed in OMIM. Likely pathogenic*: Upgraded to

NIAID Data Ecosystem40

G165R_Pathogenic

遗传变异致病性

分子动力学模拟

A total of 213 PTEN missense variants comprising of 147 VUS, 54 ClinVar Pathogenic and 12 Benign variants were slected for classification utilizing the MD simulations study.

Figshare2023-06-11 更新30

Data_Sheet_10_Whole-Exome Sequencing Analysis of Human Semen Quality in Russian Multiethnic Population.CSV

男性不育遗传学

外显子组关联分析

The global trend toward the reduction of human spermatogenic function observed in many countries, including Russia, raised the problem of extensive screening and monitoring of male fertility and eluci

NIAID Data Ecosystem10

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

遗传变异致病性

疾病基因发现

A central challenge in interpreting personal genomes is determining which mutations most likely influence disease. Although progress has been made in scoring the functional impact of individual mutati

Figshare2013-08-22 更新30

13K T2D-GENES analysis files

糖尿病遗传关联分析

外显子组关联分析

This data set includes the following summary level data files used for the 13k analysis of T2D-GENES data: wes.variants.list: list of variants to keep for any analysis of the exomes data wes.assoc.sam

NIAID Data Ecosystem30

Evaluation of prediction tools on real clinical exomes from the MyoCapture project.

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