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GenomicsFiltering and Annotation of Variants That Are Rare (FAVR)

The project developed a suite of new methods (FAVR) designed to assist the shortlisting of genetic variants under a rare variant-phenotype/disease model. The methods were designed to work with commonly used massively parallel sequencing analysis pipelines, such as the GATK or ANNOVAR, and have be...

phs000601.v1.p1 | EGA
GenomicsThe Ovarian Cancer Association Consortium Data Access Committee
Data Access Committee EGAC00001000616
EGAC00001000616 | EGA
TranscriptomicsRare and common variants in CARD14, an epidermal regulator of NF-kappaB, in psoriasis
Psoriasis is a common inflammatory disorder of the skin and other organs. We have determined that mutations in CARD14, encoding an NF-kB activator within skin epidermis, account for PSORS2. Here we describe fifteen additional rare, missense variants in CARD14, their distribution in seven psoriasis c...
ORGANISM(S): Homo sapiens 
2012-05-08 | E-GEOD-36381 | biostudies-arrayexpress
GenomicsOCAC OncoArray data
Germline genotype data on 56,479 ovarian cancer cases and controls
EGAD00010001192 | EGA
GenomicsThe Ovarian Cancer Association Consortium OncoArray genome-wide association study
A custom Illumina genotyping array, the OncoArray. The array includes a genome-wide backbone, comprising 230,000 SNPs tagging most common genetic variants, together with dense mapping of known susceptibility regions, rare variants from sequencing experiments, pharmacogenetic markers, and cancer-rela...
EGAS00001002305 | EGA
UnknownOvarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2.
Not available
S-EPMC10241792 | biostudies-literature
UnknownAn original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers.
Not available
S-EPMC4478717 | biostudies-literature
UnknownIdentification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus.
Not available
S-EPMC4962376 | biostudies-literature
UnknownCopy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.
Not available
S-EPMC9537519 | biostudies-literature
UnknownA locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.
Not available
S-EPMC3130795 | biostudies-literature
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