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Homologous recombination (HR) is an essential and highly regulated cellular process. Unintended HR in somatic cells is potentially deleterious; it can result in translocations and/or somatic cell loss of heterozygosity. This is suppressed by the BLM protein in combination with topoisomerase III, RM...
ORGANISM(S): Homo sapiens (Human) 
2022-01-17 | PXD011078 | Pride
Data Access Committee EGAC00001002686
This dataset contains one vcf file with variants from whole exome sequencing of 24 paediatric AML samples at diagnosis.
Analysis of rare germline variants in childhood AML in a large panel of cancer predisposition genes (n=216) compiled from literature review, and including genes involved in familial hematological malignancies (HM) and bone marrow failure (BMF) syndromes. The prevalence of extremely rare variants in ...
Dataset comprises one vcf file containing variants from a list of genes (DNA repair and metabolism associated genes) subset from WES of an adult AML cohort. The cohort contains 145 patient samples. WES was performed using Illumina platform.
The aim if this study was to identify variants in a specific list of genes in samples from adult AML patients. The gene list includes DNA repair and mitochondrial respiratory chain genes.
Data Access Committee EGAC00001002634
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