2026-10-14 https://api.researchdata.se/oai-pmh

oai:researchdata.se:doi-10-17044-scilifelab-19380116/0 2022-04-21 subject:ssif:3 subject:ssif:106 subject:ssif:1 principal:slug:lund-university

info:eu-repo/semantics/other http://purl.org/dc/dcmitype/Dataset https://doi.org/10.17044/SCILIFELAB.19380116 Duplex sequencing uncovers recurrent low-frequency cancer-associated mutations in KMT2A-rearranged infant acute leukemia https://orcid.org/0000-0002-9235-1953 Anna Hagström Andersson Medical and Health Sciences Medicin och hälsovetenskap Biological Sciences Biologi This dataset includes Duplex sequencing and targeted next generation sequencing (NGS) of 20 Infants and 7 Children with acute lymphoblastic leukmia. All patients had an underlying rearrangement of the KMT2A gene, either KMT2A::MLLT3 (n=5), KMT2A::AFF1 (n=12), KMT2A::MLLT1 (n=8) or KMT2A::MLLT10 (n=2). The median age of the cohort was 7 months.  Diagnostic sample from peripheral blod (n=11) or bone marrow (n=16) underwent the duplex sequencing library preparation as described in https://doi.org/10.1073/pnas.1208715109 and sequenced on the NextSeq 500 (Illumina, San Diego, CA, USA). A subset of variants were validated by targeted multiplex-PCR followed by NGS. In six patients with available relapse samples, a screening of diagnostic variants was performed by multiplex-PCR and NGS. All targeted sequencing libraries were prepared with Nextera XT DNA Sample Preparation Kit (Illumina) and sequenced on the Illumina MiSeq. info:eu-repo/semantics/restrictedAccess Lund University Lunds universitet 2022-04-21T00:00:00Z