Next generation sequencing

NIAID Data Ecosystem2026-03-13 收录

CASK基因突变检测

遗传病基因诊断

数据链接：

https://www.ncbi.nlm.nih.gov/bioproject/PRJNA792794 数据链接链接失效反馈

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Samples of two patients diagnosed with "CASK Disorders" were performed by next generation sequenced which showed CASK novo and de nove mutations.

创建时间：

2021-12-28

Genotypes of SD patients analyzed in this study.

遗传病基因诊断

桑德霍夫病突变分析

ND: not detectable; NA: not available. Novel mutations are indicated in bold, *RefSeq cDNA:NM_000521. For cDNA numbering +1 corresponds to the A of the first ATG translation initiation codon. RefSeq p

NIAID Data Ecosystem70

Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)

遗传病基因诊断

神经肌肉疾病分子病理

TRIP4 is one of the subunits of the transcriptional coregulator ASC-1, a ribonucleoprotein complex that participates in transcriptional coactivation and RNA processing events. Recessive variants in t

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Additional file 3: Table S3. of Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability

遗传病基因诊断

基因变异解读

Variants of Unknown Clinical Significance (Class 3)Â (XLSX 33Â kb)

Figshare2016-12-15 更新10

Additional file 4: of Targeted next-generation sequencing identification of mutations in patients with disorders of sex development

遗传病基因诊断

测序数据质量控制

Sequencing quality statistics of all samples. (XLSX 14.4 kb)

NIAID Data Ecosystem40

Novel ZBTB20 variant in a patient with Primrose syndrome

遗传病基因诊断

ZBTB20基因变异

Primrose syndrome is a rare autosomal dominant syndrome caused by heterozygous variants in ZBTB20. Clinical characteristics include intellectual disability, macrocephaly, ocular abnormalities, hearing

DataCite Commons2025-09-27 更新10

Next generation sequencing

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