Annotated variant files

Figshare2024-07-30 更新2026-04-28 收录

遗传病风险评估

基因变异注释

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Integrated risk models for prediction of hypertrophic cardiomyopathy in patients with unclassified variants

创建时间：

2024-07-30

Distribution of SNVs in the exon of NEU1 gene.

基因变异注释

核苷酸变异

Based on NEU1 cDNA sequence NM_000434.3. Numbers in brackets represent the p-value associated to the enrichment of SNVs in the corresponding exon calculated as described in Methods. Classification of

NIAID Data Ecosystem40

Additional file 4 of Whole exome sequencing and polygenic risk assessment for kidney functions and clinical management in both hospital-based cohort and population-based Asian cohorts

遗传病风险评估

多基因风险评分

Supplemental Material 4: Figure 1. Correlation between eGFR levels and PGS for CKD and ESKD.

NIAID Data Ecosystem30

Advantages of ShAn compared to wANNOVAR and Seattleseq.

基因变异注释

工具性能比较

Advantages of ShAn compared to wANNOVAR and Seattleseq.

Figshare2020-07-07 更新20

Hereditary Breast and Ovarian Cancer Screening Syndrome Profile in Women Diagnosed with Breast Cancer from Paraná State Southwest

遗传病风险评估

乳腺癌筛查

Abstract Objective This study evaluated the risk of the hereditary breast and ovarian cancer (HBOC) syndrome in patients with breast cancer by using the Family History Screening 7 (FHS-7) tool, a va

NIAID Data Ecosystem40

Optimizing risk communication for Lynch syndrome: Results of a randomized controlled trial of visual arrays for genetic testing

遗传病风险评估

健康政策干预

The study examined how individuals understand risk from genetic testing and how people relate risk to their own health. Additionally, the study examined risk communication with blood family members. A

DataONE2026-04-30 更新30

Annotated variant files

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