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UnknownABCA7 rare variants and Alzheimer disease risk.
Not available
S-EPMC4898320 | biostudies-literature
UnknownA Case-Only Genome-Wide Interaction Study of Smoking and Bladder Cancer Risk: Results from the COBLAnCE Cohort.
Not available
S-EPMC10487226 | biostudies-literature
UnknownMyeloid cell-derived creatine in the hypoxic niche promotes glioblastoma growth.
Not available
S-EPMC10842612 | biostudies-literature
ProteomicsDeep intronic homozygous variation in PSMC3, a subunit of the 19S proteasome regulatory complex, causes a syndromic neurosensory disorder combining deafness and cataract
The association of congenital deafness and early-onset cataracts inherited as a recessive trait is a rare combination described in only a few syndromes with very few genes identified to date. Whole-genome sequencing was performed on 3 patients from independent sibships from a large consanguineous fa...
ORGANISM(S): Homo sapiens (Human) 
2020-04-28 | PXD015836 | Pride
Proteasome Rare disease Human whole genome 
UnknownGWAS in the SIGNAL/PHARE clinical cohort restricts the association between the FGFR2 locus and estrogen receptor status to HER2-negative breast cancer patients.
Not available
S-EPMC5363591 | biostudies-literature
UnknownDetection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation.
Not available
S-EPMC7852510 | biostudies-literature
Genomicsena-DATASET-IP-27-09-2016-09:44:13:032-494 - samples
We recruited 100 healthy, male donors of self-reported European descent (EUB) and 100 of self-reported African descent (AFB) (Ghent, Belgium). For each participant, peripheral blood mononuclear cells (PBMCs) were isolated from whole blood on Ficoll-Paque density gradients. Monocytes were then positi...
EGAD00001002714 | EGA
GenomicsGenome-wide genotyping data and exome sequencing of 100 European-descent and 100 African-descent Belgians used in the EGAS000010
The 100 European-descent (EUB) and 100 African-descent (AFB) Belgians studied were genotyped for a total of 4,301,332 SNPs on the Illumina HumanOmni5-Quad BeadChips. Whole-exome sequencing was carried out for the same 200 individuals with the Nextera Rapid Capture Expanded Exome kit, on the Illumina...
EGAD00010001131 | EGA
GenomicsGenetic control of the transcriptomic response of monocytes to bacterial and viral stimuli assessed by RNA-seq in Africans and Europeans
Humans differ in the outcome that follows exposure to life-threatening pathogens, yet the extent of population differences in immune responses, and their genetic and evolutionary determinants, remain undefined. Here, we characterized, using RNA-sequencing, the transcriptional response of primary mon...
EGAS00001001895 | EGA
UnknownGenetic factors for differentiated thyroid cancer in French Polynesia: new candidate loci.
Not available
S-EPMC10294640 | biostudies-literature
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