Table S1

NIAID Data Ecosystem2026-05-01 收录

遗传变异致病性

甲状腺疾病遗传学

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Table S1. In silico prediction of effect and ACMG classification on detected the DUOXA2 variants.

创建时间：

2024-03-14

Data for: APOBEC and ADAR deaminases may cause many single nucleotide polymorphisms curated in the OMIM database

遗传变异致病性

突变体分析

Targeted Somatic Mutation (TSM) analysis for disease-associated SNPs on all genes that are: I X Chromosome OMIM SNPs; and, II All chromosome OMIM SNPs in Clinvar database.

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ClinVar Variant Classification Results

遗传变异致病性

文本分类

Available in two formats: CSV and parquet. This CSV file contains predictions from a ClinVarBERT model that classifies genetic variant submissions into three pathogenicity categories: Pathogenic/Likel

DataCite Commons2025-11-07 更新40

Additional file 1 of Lethal variants in humans: lessons learned from a large molecular autopsy cohort

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 Ecosystem30

Benchmark of prediction tools on ClinVarNew deleterious missense variants and BenignEvalSet rare benign missense variants.

遗传变异致病性

生物信息学基准

Best scores are in bold. (XLSX)

NIAID Data Ecosystem40

An atlas of amyloid aggregation: the impact of substitutions, insertions, deletions and truncations on amyloid beta fibril nucleation

淀粉样蛋白聚集

遗传变异致病性

Multiplexed assays of variant effects (MAVEs) guide clinical variant interpretation and reveal disease mechanisms. To date, MAVEs have focussed on a single mutation type - amino acid (AA) substitutio

NIAID Data Ecosystem30

<b>Table</b><b> S</b><b>1</b>

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