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TranscriptomicsGenotyping by whole-exome sequencing of human with hereditary pheochromocytoma
Whole exome sequencing identification of Max mutations and further validation in pheochromocytoma patients
ORGANISM(S): Homo sapiens 
2012-03-01 | E-MTAB-591 | biostudies-arrayexpress
GenomicsEnhanced whole exome sequencing by higherDNA insert lengths
Background: Whole exome sequencing (WES) has been proven to serve as a valuable basis for various applications such as variant calling and copy number variation (CNV) analyses. For those analyses the read coverage should be optimally balanced throughout protein coding regions at sufficient read dept...
ORGANISM(S): Homo sapiens 
2016-07-28 | E-MTAB-4527 | biostudies-arrayexpress
GenomicsExome sequencing in classic Hairy cell leukaemia reveals widespread variation in acquired somatic mutations between individual tumours apart from the signature BRAF V(600)E lesion
Whole exome sequencing of 5 HCLc tumor-germline pairs. Genomic DNA from HCLc tumor cells and T-cells for germline was used. Whole exome enrichment was performed with either Agilent SureSelect (50Mb, samples S3G/T, S5G/T, S9G/T) or Roche Nimblegen (44.1Mb, samples S4G/T and S6G/T). The resulting exom...
ORGANISM(S): Homo sapiens 
2016-02-01 | E-MTAB-4313 | biostudies-arrayexpress
GenomicsGenomic landscape of carcinogen induced mouse skin squamous cell carcinoma: whole-exome sequencing
Whole-exome sequencing of induced murine squamous cell carcinoma. 26 samples are included.
ORGANISM(S): Mus musculus 
2014-09-11 | E-MTAB-2887 | biostudies-arrayexpress
GenomicsWhole exome sequencing of Cervical Squamous samples
The raw data consist of whole exome sequencing data of cervical squamous samples
ORGANISM(S): Homo sapiens 
2022-02-11 | E-MTAB-11407 | biostudies-arrayexpress
TranscriptomicsWhole exome sequencing grid of untreated, TPA-treated, and DMBA+TPA-treated mouse back skin
We generated meso-scale grids from mouse back skin by collecting paired whole-exome sequencing (WES) and bulk RNA sequencing (bulk RNA), retaining coordinate information to preserve spatial context across the grids. Grids were derived from untreated mice (UN, n = 4), mice treated with the cell-cycle...
ORGANISM(S): Mus musculus 
2026-06-11 | E-MTAB-15745 | biostudies-arrayexpress
TranscriptomicsWhole-exome sequencing identifies mutations of BCOR in acute myeloid leukemia with normal karyotype
Among acute myeloid leukemias (AML) with normal karyotype (CN-AML), NPM1 and CEBPA mutations define WHO provisional entities accounting for ~60% of cases, but the remaining ~40% remains poorly characterized. By whole exome-sequencing (WES) of one CN-AML patient lacking mutations in NPM1, CEBPA, FLT3...
ORGANISM(S): Homo sapiens 
2011-12-16 | E-GEOD-30442 | biostudies-arrayexpress
GenomicsWhole exome sequencing suggests much of non BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles.
Whole exome sequencing identification of putative founder mutations in non-BRCA1/2 breast cancer patients
ORGANISM(S): Homo sapiens 
2013-08-08 | E-MTAB-1172 | biostudies-arrayexpress
GenomicsDiagnostic Exome Sequencing in Persons with Severe Intellectual Disability.
Intellectual disability is a common condition that carries lifelong severe medical and developmental consequences. The causes of intellectual disability (ID) remain unknown for the majority of patients due to the extensive clinical and genetic heterogeneity of this disorder. De novo mutations may pl...
ORGANISM(S): Homo sapiens 
2013-11-06 | E-GEUV-5 | biostudies-arrayexpress
TranscriptomicsWhole exome sequencing of anaplastic thyroid cancer of Indian origin
The study involves whole exome sequencing of 38 orphan primary tumors obtained from anaplastic thyroid carcinoma patients of Indian origin. With this, we aim to describe the mutational profile of this specific subset of anaplastic thyroid cancer patients. This knowledge will further allow us to gai...
ORGANISM(S): Homo sapiens 
2025-07-01 | E-MTAB-13697 | biostudies-arrayexpress
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