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MetabolomicsRare genetic variants affecting urine metabolite levels link population variation to inborn errors of metabolism

We investigated the cumulative contribution of rare, exonic genetic variants on the concentration of 1,487 metabolites and 53,714 metabolite ratios in urine by performing gene-based tests based on 226,233 variants from up to 4,864 participants of the German Chronic Kidney Disease (GCKD)...

2021-03-09 | MTBLS284 | MetaboLights
TranscriptomicsTargeted exome sequencing of 69 human melanoma brain metastases
In-depth information regarding the DFCI OncoPanel sequencing panel has been described previously. Briefly, sequencing is performed using an Illumina HiSeq 2500 system (RRID:SCR_016383) with 2×100 paired-end reads. Samples must meet an average 50X coverage and minimum of 30X coverage for 80% of targe...
ORGANISM(S): Homo sapiens 
2024-11-21 | E-MTAB-14575 | biostudies-arrayexpress
GenomicsNFKB1 Missense Variants
1 Novel Missense Variants in Patients with Primary Immunodeficiency and Immune dysregulation
PRJEB46587 | ENA
TranscriptomicsEffects of the expression of M1775R and A1789T BRCA1 missense variants on the transcriptome of HeLa cells
BRCA1 (breast cancer 1, early onset) mutations confer a high breast and ovarian cancer risk. Most of BRCA1 cancer-predisposing mutations originate truncated proteins, but missense mutations have also been detected in familial breast and ovarian cancer patients. These variants are rare and their role...
ORGANISM(S): Homo sapiens 
2012-06-01 | E-MTAB-761 | biostudies-arrayexpress
GenomicsRare germline heterozygous missense variants of the BRCA1-Associated Protein 1 gene, BAP1, heterozygous missense variants cause a syndromic neurodevelopmental disorder
Rare germline heterozygous missense variants of the BRCA1-Associated Protein 1 gene, BAP1, heterozygous missense variants cause a syndromic neurodevelopmental disorder
PRJNA786928 | ENA
GenomicsMassively parallel functional testing of MSH2 missense variants conferring Lynch Syndrome risk
Massively parallel functional testing of MSH2 missense variants conferring Lynch Syndrome risk
PRJNA680712 | ENA
GenomicsDisease-associated genetic variants can cause missense effects in tissue-specific protein isoforms
Disease-associated genetic variants can cause missense effects in tissue-specific protein isoforms
PRJNA1294859 | ENA
GenomicsRare germline heterozygous missense variants of the BRCA1-Associated Protein 1 gene, BAP1, heterozygous missense variants cause a syndromic neurodevelopmental disorder
Nuclear deubiquitinase BAP1 (BRCA1-Associated Protein 1) is a core component of multiprotein complexes that promote transcription by reversing the ubiquitination of histone 2A (H2A). BAP1 is a tumor suppressor gene whose germline loss-of-function variants predispose to cancer. To our knowledge, ther...
ORGANISM(S): Homo sapiens 
2021-12-10 | GSE190394 | GEO
TranscriptomicsTranscription profiling of yeast transformed with five deleterious BRCA1 variants
In order to investigate the molecular mechanisms activated by deleterious BRCA1 variants in yeast, the RNA obtained from yeast cells transformed with five variants exhibiting a phenotypic effect, either on proliferation and/or on HR was hybridized on microarrays in comparison with the RNA from cells...
ORGANISM(S): Saccharomyces cerevisiae 
2009-03-31 | E-MEXP-1867 | biostudies-arrayexpress
GenomicsMissense variants in human forkhead transcription factors reveal determinants of forkhead DNA bispecificity
Missense variants in human forkhead transcription factors reveal determinants of forkhead DNA bispecificity
PRJNA1266190 | ENA
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