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

Additional file 3 of Var∣Decrypt: a novel and user-friendly tool to explore and prioritize variants in whole-exome sequencing data

外显子组测序变异检测

变异优先级排序

Additional file 3: Table S2. Variants and protein metrics.

Figshare2024-08-13 更新40

Additional file 15: of Whole exome sequencing in adult-onset hearing loss reveals a high load of predicted pathogenic variants in known deafness-associated genes and identifies new candidate genes

遗传性耳聋基因分析

外显子组测序变异检测

Table S11. which contains further details of the validated variants listed in Table 3. (XLS 32 kb)

Figshare2018-09-05 更新60

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

Illumina_HumanCoreExome

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