Focal cortical dysplasias (FCD) represent almost 75% of the group of Malformations of cortical development, about 20% of cases are submitted to surgery to remove the affected area, which causes epilep

NIAID Data Ecosystem20

Supplemental data from: Next-generation sequencing base calls for mosaic mutations

遗传病基因诊断

嵌合突变检测

Context: Some children with diazoxide-unresponsive congenital hyperinsulinism (HI) lack any detectable disease-causing mutation in peripheral blood DNA. Objective: To examine whether somatic post-zy

NIAID Data Ecosystem10

Multi-organ mosaicism project

嵌合突变检测

体细胞嵌合体特征分析

Finding the mosaic mutation from various disease and organ. After that we try to find the characteristics of mosaic mutations.

NIAID Data Ecosystem30

Additional file 1 of The rate and spectrum of mosaic mutations during embryogenesis revealed by RNA sequencing of 49 tissues

嵌合突变检测

组织特异性基因表达

Additional file 1. GTEx donor IDs. GTEx release v7 samples used for different analyses performed in this study.

Figshare2020-05-27 更新10