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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
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
GenomicsThe Ovarian Cancer Association Consortium Data Access Committee
Data Access Committee EGAC00001000616
EGAC00001000616 | EGA
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
UnknownIdentification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk.
Not available
S-EPMC3609647 | biostudies-literature
UnknownOvarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2.
Not available
S-EPMC10241792 | biostudies-literature
UnknownA transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer.
Not available
S-EPMC6314198 | biostudies-literature
UnknownNo evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing.
Not available
S-EPMC4938802 | biostudies-literature
UnknownAssociations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis.
Not available
S-EPMC6734940 | biostudies-literature
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