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SA Pathology Data Access Committee

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Rob King
rob.king@sa.gov.au

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This DAC controls 8 datasets

Dataset ID	Description	Technology	Samples
EGAD00001000967	This dataset contains the fastq sequencing data collected from bone marrow DNA of a chronic myeloid leukaemia patient at time of diagnosis.	Illumina HiSeq 2000	4
EGAD00001004179	This dataset contains WES and RNA-Seq fastq files for 65 CML patient samples at various stages of disease progression.	Illumina HiSeq 2000 Illumina HiSeq 2500 NextSeq 500	183
EGAD00001004861	Somatic mutation frequencies in patients with therapy-related myeloid neoplasms (129 patients, 181 samples including bone marrow, mesenchymal stromal cells and hair DNA) and primary myelodysplastic syndrome (108 patients, 215 samples including bone marrow, mesenchymal stromal cells and hair DNA) is assessed by deep sequencing of selected genes, using a Fluidigm Access Array, a Nimblegen capture panel and an Ion AmpliSeq panel. The dataset consists of paired fastq files obtained by either Hiseq (2x101bp) or Nextseq (2x150bp) Illumina sequencing. The mutational burden is found to be similar in both, however the distribution of variants is different. Correlation of the mutational spectrum with prognosis is also observed.	Illumina HiSeq 2000 NextSeq 500	396
EGAD00001005364	Exome sequencing data of two siblings of with a neurodegenerative phenotype due to SMVT deficiency. Exonic sequences were enriched using the SeqCap EZ Human Exome Library v3.0 kit (Roche NimbleGen) and libraries sequenced as 100bp paired-end reads on the HiSeq 2000 platform (Illumina).	Illumina HiSeq 2000	2
EGAD00001005775	This dataset contains 7 paired end fastq files obtained with Illumina Hiseq and Nextseq sequencing of whole exomes relevant to a study of pseudodiastrophic dysplasia (PDD). It includes 3 patients from 2 unrelated families diagnosed with PDD, together with the four parents.	Illumina HiSeq 2500 NextSeq 500	7
EGAD00001005937	Raw Whole Exome Sequencing data from Blood samples drawn from related Female participants presenting severe congenital neutropenia.	Illumina HiSeq 2500	2
EGAD00001006010	This dataset consists of 20 fastq files in total from exome and myeloid gene panel sequencing of 15 carriers of germline RUNX1 mutations from 10 different families.	Illumina HiSeq 2500 Ion Torrent PGM Ion Torrent Proton NextSeq 500	16
EGAD00001006578	This dataset contains three cram files for paired end sequencing of a trio, sequenced with Illumina Hiseq 2500	Illumina HiSeq 2500	3