Human Raw sequence reads. Homo sapiens

NIAID Data Ecosystem2026-03-12 收录

外显子组测序变异检测

儿科危重病遗传诊断

数据链接：

https://www.ncbi.nlm.nih.gov/bioproject/PRJNA746436 数据链接链接失效反馈

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The goal of this study is to identify the variants in exons among some pediatric critically ill patients.

创建时间：

2021-07-14

Additional file 5: of Whole exome sequencing identifies novel candidate genes that modify chronic obstructive pulmonary disease susceptibility

慢性阻塞性肺病遗传学

外显子组测序变异检测

Annotated variants for the 81 COPD candidate genes. Whole exome sequencing variants identified in the 81 COPD candidate genes in the 62 susceptible smokers with COPD (tab "Susceptible") and 30 resista

NIAID Data Ecosystem100

Exonic variants detected by sequencing of 187 PD patients and validation in 376 controls.

帕金森病遗传学

外显子组测序变异检测

*Exon 1 of B3GALT1 is non-coding, AA = amino acid, MAF = minor allele frequency, OR = Odds ratio, CI = confidence interval, P = P-value. Only non-synonymous and indel coding variants were genotyped in

NIAID Data Ecosystem50

Whole-exome sequencing of two siblings with intellectual disability.

智力障碍遗传病因

外显子组测序变异检测

We performed whole-exome sequencing of two siblings with intellectual disability to demonstrate the power of EXCAVATOR pipeline in the detection of genomic alterations involved in mental retardation.

NIAID Data Ecosystem50

List of the bi-allelic mutations retained from the whole exome sequences after the filtering steps.

外显子组测序变异检测

双等位基因突变筛选

(PDF)

NIAID Data Ecosystem70

File data is Comparison of WES with CNV-seq results.

外显子组测序变异检测

遗传病诊断

Here, we developed a novel pipeline for whole exome sequencing (WES) analysis, designated as next-generation WES (ngWES). Being a composite bioinformatics analysis approach, ngWES is capable of the de

NIAID Data Ecosystem50

Human Raw sequence reads. Homo sapiens

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