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Genomicsena-DATASET-CRUK-CI-16-05-2016-12:25:56:672-139 - samples
Targeted sequencing of 173 genes in 2433 primary breast tumours. Data includes 2433 tumour samples, 523 adjacent normal (breast) samples and 127 blood samples. Libraries were prepared with Illumina's Nextera custom enrichment kit targetting all the exons of the most frequently mutated breast cance...
EGAD00001002115 | EGA
GenomicsMETABRIC: Data from Pereira et al (2016), The somatic mutation profiles of 2433 breast cancers refine their genomic and transcriptomic landscapes. Nat Comms 7.
The genomic landscape of breast cancer is complex, and inter- and intra-tumour heterogeneity are important challenges in treating the disease. In this study, we sequence 173 genes in 2433 primary breast tumours that have copy number aberration (CNA), gene expression, and long-term clinical follow-u...
EGAS00001001753 | EGA
TranscriptomicsTranscription profiling of human patients recruited to the paclitaxel arm of the CTCR-OV01 study, pre-treatment individuals with ovarian cancer
All patients with suspected ovarian cancer (Raised CA 125 and a complex pelvic mass in a perimenopausal woman) were radiologically staged using CT scan and a chest x-ray. Patients with evidence of intra-abdominal metastasis and/or malignant pleural effusion were approached for entry to the study. Ti...
ORGANISM(S): Homo sapiens 
2008-06-16 | E-GEOD-9455 | biostudies-arrayexpress
UnknownThe genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
Not available
S-EPMC5307971 | biostudies-literature
UnknownSPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Not available
S-EPMC8008487 | biostudies-literature
UnknownThe ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Not available
S-EPMC6752273 | biostudies-literature
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