The Office of Cancer Genomics at the National Cancer Institute sponsored a series of studies as part of the Cancer Genome Characterization Initiative (CGCI) to assess novel emerging sequencing technol

NIAID Data Ecosystem40

Mutational analysis of serial samples from patients in transformation.

基因突变分析

疾病转化研究

Mutational analysis of serial samples from patients in transformation.

NIAID Data Ecosystem50

Clinical exome sequencing for Autosomal recessive bestrophinopathy

遗传性眼病

基因突变分析

Clinical exome sequencing results associated with a novel compound heterozygous mutation of the BEST1 gene in two siblings with autosomal recessive bestrophinopathy

NIAID Data Ecosystem40

a whole genome sequencing (WGS) study of 88 matched HCC tumour/normal pairs

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