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Whole-exome sequencing for developmental delay

NIAID Data Ecosystem2026-05-10 收录

发育异常基因诊断

家系遗传变异分析

数据链接：

https://www.ncbi.nlm.nih.gov/sra/SRP618284 数据链接链接失效反馈

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资源简介：

Novel variants associate with multiple congenital malformations and autosomal dominant polycystic kidney disease

应用场景：

创建时间：

2025-09-11

成纤维细胞衰老

家系遗传变异分析

To study the genetic changes in cardiac fibroblasts after senescence, we isolated cardiac fibroblasts from neonatal rats and treated them with H 2 O 2 for 48h to detect their geneti

Figshare2024-05-15 更新140

Additional file 1: Table S1. of Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

发育异常基因诊断

全基因组测序变异分析

DSD gene variants. Each variant found in a diagnostic gene (after the filtering and curation process) is shown. In some cases where the gene is inherited in an autosomal recessive manner, two variants

Figshare2016-12-14 更新80

Annotation of the hybrid status of SNPs in each chicken genome sequenced in this study.

SNP注释

家系遗传变异分析

(XLSX)

NIAID Data Ecosystem70

Preliminary candidate variants genotyping and distribution through the members of the reported family.

家系遗传变异分析

候选变异基因分型

Preliminary candidate variants genotyping and distribution through the members of the reported family.

NIAID Data Ecosystem130

AR gene mutation and seminoma

肿瘤遗传学

发育异常基因诊断

A infertile women with primary amenorrhea had bilateral inguinal mass. The surgical pathology suggested seminoma. Further full exon sequencing results suggested that the missense mutation in AR gene w

NIAID Data Ecosystem70

Whole-exome sequencing for developmental delay

资源简介：

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