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TranscriptomicsA genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33
Molecular cytogenetic techniques such as microarray analysis have allowed for a “genotype-first” approach to the characterization of chromosome abnormalities: in the absence of clinical features suggestive of a specific syndrome, patients with similar copy number imbalances can be examined for commo...
ORGANISM(S): Homo sapiens 
2010-12-31 | E-GEOD-21536 | biostudies-arrayexpress
ProteomicsCharactering the lipidome of Huh7 Zika infected cells at 24hpi and 48hpi
Lipidomic analysis of Huh7 cells infected with Zika FSS13025 at an MOI of ~10. Samples collected at 24 and 48 hrs post infection.
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2018-10-29 | MSV000083079 | MassIVE
Genomicsena-DATASET-LUDJHU-29-01-2018-17:38:21:660-204 - samples
Sequencing data from 1,005 cancer patients and 812 healthy controls. All samples prepared using Safe-SeqS technology and sequenced on an Illumina MiSeq and/or HiSeq instrument. Paired FASTQ files for correspond to read 1 and the index read present (R and I respectively).
EGAD00001003931 | EGA
TranscriptomicsSelective inhibition of Homo sapiens M1 macrophages where SP140 mRNA is inhibited using siRNA
As part of our study in understanding the role of SP140 in inflammatory pathways in macrophages, we inhibited SP140 mRNA using siRNA. Peripheral blood mononuclear cells (PBMCs) were obtained from whole blood of healthy donors (from Sanquin Institute Amsterdam or from GSK Stevenage Blood Donation U...
ORGANISM(S): Homo sapiens 
2022-07-22 | E-MTAB-12011 | biostudies-arrayexpress
GenomicsDetection and localization of surgically resectable cancers with a multi-analyte blood test
Earlier detection is key to reducing cancer deaths. Here we describe a blood test that can detect eight common cancer types through assessment of the levels of circulating proteins and mutations in cell-free DNA. We applied this test, called CancerSEEK, to 1,005 patients with clinically detected can...
EGAS00001002764 | EGA
GenomicsNHLBI and NIDDK Sponsored GWAS in Benign Ethnic Neutropenia/Leukopenia (BEN) in African-Americans (age >45 yrs old) from the REGARDS

Benign ethnic neutropenia (BEN) is a clinical condition more commonly observed in African-Americans. It is characterized by a relative reduction in neutrophil count by about 1000 cells per microliter, leading to a decrease in total leukocyte count by similar decrement. Previous reports of this co...

phs000507.v1.p1 | EGA
TranscriptomicsRecurrent 17q23.2 microdeletion flanked by segmental duplications associated with heart defects and limb abnormalities
[original title] Identification of recurrent microdeletion on 17q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities. Segmental duplications, are known to mediate non-allelic homologous recombination and have been suggested to be hotspots in chromosome evolut...
ORGANISM(S): Homo sapiens 
2010-12-31 | E-GEOD-19932 | biostudies-arrayexpress
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