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  1. Article

    Author Correction: Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries

    Ceres Fernandez-Rozadilla, Maria Timofeeva, Zhishan Chen, Philip Law… in Nature Genetics (2023)

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    Article

    Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries

    Colorectal cancer (CRC) is a leading cause of mortality worldwide. We conducted a genome-wide association study meta-analysis of 100,204 CRC cases and 154,587 controls of European and east Asian ancestry, iden...

    Ceres Fernandez-Rozadilla, Maria Timofeeva, Zhishan Chen, Philip Law… in Nature Genetics (2023)

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    Article

    Detection of low-frequency DNA variants by targeted sequencing of the Watson and Crick strands

    Identification and quantification of low-frequency mutations remain challenging despite improvements in the baseline error rate of next-generation sequencing technologies. Here, we describe a method, termed Sa...

    Joshua D. Cohen, Christopher Douville, Jonathan C. Dudley… in Nature Biotechnology (2021)

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    Article

    Limited heterogeneity of known driver gene mutations among the metastases of individual patients with pancreatic cancer

    Christine Iacobuzio-Donahue and colleagues report a detailed analysis of whole-genome sequencing data from primary and metastatic tumors in four patients with pancreatic cancer. They find that in each patient ...

    Alvin P Makohon-Moore, Ming Zhang, Johannes G Reiter, Ivana Bozic… in Nature Genetics (2017)

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    Article

    Somatic mutations of SUZ12 in malignant peripheral nerve sheath tumors

    Chetan Bettegowda, Bert Vogelstein and colleagues identify somatic mutations of SUZ12 in malignant peripheral nerve sheath tumors from individuals with and without neurofibromatosis. SUZ12 encodes a chromatin-mod...

    Ming Zhang, Yuxuan Wang, Sian Jones, Mark Sausen, Kevin McMahon… in Nature Genetics (2014)

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    Article

    Exome sequencing identifies frequent inactivating mutations in BAP1, ARID1A and PBRM1 in intrahepatic cholangiocarcinomas

    Laura Wood, Kenneth Kinzler, Nickolas Papadopoulos, Aldo Scarpa and colleagues report exome sequencing of intrahepatic cholangiocarcinomas. They identify recurrent somatic mutations in BAP1, ARID1A and PBRM1.

    Yuchen Jiao, Timothy M Pawlik, Robert A Anders, Florin M Selaru… in Nature Genetics (2013)

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    Article

    Integrated genomic analyses identify ARID1A and ARID1B alterations in the childhood cancer neuroblastoma

    Victor Velculescu, Michael Hogarty and colleagues report whole-genome and exome sequences of neuroblastoma, the most common solid tumor in children. They identify recurrent somatic mutations in the chromatin-r...

    Mark Sausen, Rebecca J Leary, Siân Jones, Jian Wu, C Patrick Reynolds… in Nature Genetics (2013)

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    Article

    Sensitive digital quantification of DNA methylation in clinical samples

    Gene-specific changes in DNA methylation are promising biomarkers, but sensitive quantitative detection of these epigenetic marks remains challenging. Li et al. adapt the so-called BEAMing technology to enable hi...

    Meng Li, Wei-dong Chen, Nickolas Papadopoulos, Steven N Goodman… in Nature Biotechnology (2009)

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    Article

    The role of companion diagnostics in the development and use of mutation-targeted cancer therapies

    Among all the known differences between cancer and normal cells, it is only the genetic differences that unequivocally distinguish the former from the latter. It is therefore not surprising that recent therape...

    Nickolas Papadopoulos, Kenneth W Kinzler, Bert Vogelstein in Nature Biotechnology (2006)

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    Article

    CACP, encoding a secreted proteoglycan, is mutated in camptodactyly-arthropathy-coxa vara-pericarditis syndrome

    Altered growth and function of synoviocytes, the intimal cells which line joint cavities and tendon sheaths, occur in a number of skeletal diseases1. Hyperplasia of synoviocytes is found in both rheumatoid arthri...

    Jose Marcelino, John D. Carpten, Wafaa M. Suwairi, Orlando M. Gutierrez… in Nature Genetics (1999)

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    Article

    Monoallelic mutation analysis (MAMA) for identifying germline mutations

    Dissection of germline mutations in a sensitive and specific manner presents a continuing challenge. In dominantly inherited diseases, mutations occur in only one allele and are often masked by the normal alle...

    Nickolas Papadopoulos, Fredrick S. Leach, Kenneth W. Kinzler… in Nature Genetics (1995)