The 15q13.3 microdeletion is a recurrent CNV, presumably mediated by NAHR between segmental duplications in chromosome 15. The 15q13.3 deletion and duplication are associated with a wide range of clin

Figshare2017-06-20 更新30

Additional file 4 of A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing

遗传病临床基因组学

基因型-表型关联

The list of HPO terms of 80 proband phenotypes. (XLSX 16 kb)

Figshare2019-07-26 更新20

Pathogenicity assessment of Germline Variants

基因组变异致病性分类

遗传病临床基因组学

Dataset to reproduce results shown in paper Nicora, G., Zucca, S., Limongelli, I. et al. A machine learning approach based on ACMG/AMP guidelines for genomic variant classification and prioritization.

NIAID Data Ecosystem50

WP4940 - 15q11.2 copy number variation syndrome - Homo sapiens

染色体微缺失

拷贝数变异分析

This pathway shows the genes known in the 15q11.2 region which can cause a copy number variation syndrome (CNV) if deleted or duplicated (or triplicated). These rare genetic syndromes are called 15q11

NIAID Data Ecosystem20

Clinical and molecular characterization of a de novo 19p13.3 microdeletion

资源简介：

相关数据集