Basement membranes (BMs) are ubiquitous extracellular matrices whose composition remains elusive, limiting our understanding of BM regulation and function. By developing a bioinformatic and in vivo di

NIAID Data Ecosystem90

Whole genome sequencing and rare variant analysis in essential tremor families

原发性震颤遗传学

罕见病遗传变异分析

Essential tremor (ET) is one of the most common movement disorders. The etiology of ET remains largely unexplained. Whole genome sequencing (WGS) is likely to be of value in understanding a large prop

NIAID Data Ecosystem40

Additional file 1: of Integrating rare genetic variants into pharmacogenetic drug response predictions

药物基因组学

罕见病遗传变异分析

Overview of NGS-based analyses of pharmacogenes. (XLSX 42 kb)

Figshare2018-05-25 更新90

Additional file 11 of Predicting disease severity in metachromatic leukodystrophy using protein activity and a patient phenotype matrix

疾病严重程度

罕见病遗传变异分析

Additional file 11: Table S10. Number of mutations with non-zero allele frequencies in each subpopulation in gnomAD. Number of patients screened before encountering a novel mutation are also shown by

NIAID Data Ecosystem60

Genetic Landscape of Adult Langerhans Cell Histiocytosis

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