Homo sapiens
collection_date
missing: control sample
ethnicity
Utah/Mormon
sex
female
description
Extended whole exome data of HG001 generated using Twist Exome 2.0 plus Comprehensive Spike-in probes, supplemented with custom capture probes targeting the intronic regions of Japanese insurance-listed 188 genes and ACMG Secondary Finding (SF v3.2) 81 genes, 70 regions associated with repeat expansion disorders, and mitochondrial DNA, as well as 50 official RNU regions recognized by HGNC.
bioproject_id
PRJDB37987
tissue
Blood
sample_title
RNU+extended exome of HG001 (NA12878)
isolate
HG001 (NA12878)
cell_line
HG001 (NA12878)
geo_loc_name
USA
cell_type
Lymphoblastoid cell line
age
missing
biomaterial_provider
Coriell Institute
sample_name
HG001_RNU-ExtendedWES