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GenomicsDNA methylation is stable after MMEJ and NHEJ double strand break repair
DNA double strand breaks (DSBs) are a major source of mutations. Both non-homologous-end-joining (NHEJ) and microhomology-mediated-end-joining (MMEJ) DSB repair pathways are error prone and produce deletions, which can lead to cancer. DSBs also lead to epigenetic changes, including demethylation, wh...
ORGANISM(S): Homo sapiens 
2022-09-11 | E-MTAB-12037 | biostudies-arrayexpress
GenomicsDNA Methylation is stable after MMEJ and NHEJ double strand break repair - OCI-AML3 dataset
DNA double strand breaks (DSBs) are a major source of mutations. Both non-homologous-end-joining (NHEJ) and microhomology-mediated-end-joining (MMEJ) DSB repair pathways are error prone and produce deletions, which can lead to cancer. DSBs also lead to epigenetic changes, including demethylation, wh...
ORGANISM(S): Homo sapiens 
2022-08-25 | E-MTAB-12061 | biostudies-arrayexpress
GenomicsA reference model for circulating hematopoietic stem cells with applications to diagnostics
We performed deep targeted somatic mutation analysis to identify cases of clonal hematopoiesis (CH) associated with pre-leukemic mutations. For the healthy cohort, we used our CH panel V3, containing 705 probes, covering leukemia-related Single Nucleotide Variants (SNVs) and Indels in 47 genes, comp...
ORGANISM(S): Homo sapiens 
2025-01-08 | E-MTAB-14777 | biostudies-arrayexpress
UnknownUtilizing insights of DNA repair machinery to discover MMEJ deletions and novel mechanisms.
Not available
S-EPMC11662932 | biostudies-literature
UnknownAn improved molecular inversion probe based targeted sequencing approach for low variant allele frequency.
Not available
S-EPMC8826764 | biostudies-literature
GenomicsCombined Functional and Genomic Single clonal Stem Cell Analysis Pinpointed at Diagnosis Leukemic Clones Responsible for Acute Myeloid Leukemia Relapse
Acute myeloid leukemia (AML) is a hematological malignancy, associated with unfavorable patient outcome primarily due to disease relapse. Since specific early leukemic hematopoietic stem and progenitor cells (HSPCs) are suggested to be responsible for AML propagation, the present study used single c...
ORGANISM(S): Homo sapiens 
2022-11-12 | E-MTAB-12238 | biostudies-arrayexpress
UnknownShort tandem repeat stutter model inferred from direct measurement of in vitro stutter noise.
Not available
S-EPMC6412005 | biostudies-literature
UnknownRecurrent deletions in clonal hematopoiesis are driven by microhomology-mediated end joining.
Not available
S-EPMC8080710 | biostudies-literature
UnknownA generic, cost-effective, and scalable cell lineage analysis platform.
Not available
S-EPMC5088600 | biostudies-literature
UnknownInflammatory signals from fatty bone marrow support DNMT3A driven clonal hematopoiesis.
Not available
S-EPMC10097668 | biostudies-literature
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