50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array,

NIAID Data Ecosystem50

Additional file 38: of Systematic analysis of dark and camouflaged genes reveals disease-relevant genes hiding in plain sight

伪装基因注释

疾病基因组学

10x Genomics camouflaged gene annotations in hg38. (TXT 459 kb)

Figshare2019-05-20 更新30

Next Generation Mendelian Genetics: Kabuki Syndrome. Next Generation Mendelian Genetics: Kabuki Syndrome

疾病基因发现

罕见病分子诊断

The ultimate purpose of this research is to identify genes causing hereditary disorders. We are scaling a new approach to identify the candidate genes and gene mutations that underlie rare human Mende

NIAID Data Ecosystem30

Additional file 33: of Systematic analysis of dark and camouflaged genes reveals disease-relevant genes hiding in plain sight

资源简介：

Additional file 33: of Systematic analysis of dark and camouflaged genes reveals disease-relevant genes hiding in plain sight

资源简介：

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