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  1. Article

    Open Access

    Systematic discovery of gene fusions in pediatric cancer by integrating RNA-seq and WGS

    Gene fusions are important cancer drivers in pediatric cancer and their accurate detection is essential for diagnosis and treatment. Clinical decision-making requires high confidence and precision of detection...

    Ianthe A. E. M. van Belzen, Casey Cai, Marc van Tuil, Shashi Badloe… in BMC Cancer (2023)

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    Article

    A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer

    Roland Kuiper and colleagues identify a homozygous germline nonsense mutation in the base-excision repair gene NTHL1 in three families with recessive inheritance of adenomatous polyposis.

    Robbert D A Weren, Marjolijn J L Ligtenberg, C Marleen Kets… in Nature Genetics (2015)

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    Article

    Refining analyses of copy number variation identifies specific genes associated with developmental delay

    Evan Eichler and colleagues report an expanded copy number variation (CNV) morbidity map of developmental delay, with additional resequencing of candidate genes in regions implicated by large CNVs. They identi...

    Bradley P Coe, Kali Witherspoon, Jill A Rosenfeld, Bregje W M van Bon… in Nature Genetics (2014)