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        <parTitl xml:lang="en">Duplex sequencing uncovers recurrent low-frequency cancer-associated mutations in KMT2A-rearranged infant acute leukemia</parTitl>
        <IDNo agency="SND">doi-10-17044-scilifelab-19380116-0</IDNo>
        <IDNo agency="DOI">https://doi.org/10.17044/SCILIFELAB.19380116</IDNo>
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        <producer xml:lang="en" abbr="SND">Swedish National Data Service</producer>
        <producer xml:lang="sv" abbr="SND">Svensk nationell datatjänst</producer>
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      <holdings URI="https://doi.org/10.17044/SCILIFELAB.19380116">Landing page</holdings>
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    <citation>
      <titlStmt>
        <titl xml:lang="sv"></titl>
        <parTitl xml:lang="en">Duplex sequencing uncovers recurrent low-frequency cancer-associated mutations in KMT2A-rearranged infant acute leukemia</parTitl>
        <IDNo agency="SND">doi-10-17044-scilifelab-19380116-0</IDNo>
        <IDNo agency="DOI">https://doi.org/10.17044/SCILIFELAB.19380116</IDNo>
      </titlStmt>
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        <AuthEnty xml:lang="en" affiliation="Science for Life Laboratory">Pilheden, Mattias</AuthEnty>
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        <distrbtr xml:lang="en" abbr="SND" URI="https://snd.se">Swedish National Data Service</distrbtr>
        <distrbtr xml:lang="sv" abbr="SND" URI="https://snd.se">Svensk nationell datatjänst</distrbtr>
        <distDate xml:lang="en" date="2022-04-21" />
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      <holdings URI="https://doi.org/10.17044/SCILIFELAB.19380116">Landing page</holdings>
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      <abstract xml:lang="en" contentType="abstract">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.</abstract>
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        <restrctn xml:lang="en">Access to data through an external actor. Access to data is restricted.</restrctn>
        <restrctn xml:lang="sv">Åtkomst till data via extern aktör. Tillgång till data är begränsad.</restrctn>
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