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    Article

    Long-range phasing of dynamic, tissue-specific and allele-specific regulatory elements

    Epigenomic maps identify gene regulatory elements by their chromatin state. However, prevailing short-read sequencing methods cannot effectively distinguish alleles, evaluate the interdependence of elements in...

    Sofia Battaglia, Kevin Dong, **gyi Wu, Zeyu Chen, Fadi J. Najm in Nature Genetics (2022)

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    Simultaneous detection of genotype and phenotype enables rapid and accurate antibiotic susceptibility determination

    Multidrug resistant organisms are a serious threat to human health1,2. Fast, accurate antibiotic susceptibility testing (AST) is a critical need in addressing escalating antibiotic resistance, since delays in ide...

    Roby P. Bhattacharyya, Nirmalya Bandyopadhyay, Peijun Ma, Sophie S. Son in Nature Medicine (2019)

  3. Article

    Publisher Correction: Enhancer signatures stratify and predict outcomes of non-functional pancreatic neuroendocrine tumors

    An amendment to this paper has been published and can be accessed via a link at the top of the paper.

    Paloma Cejas, Yotam Drier, Koen M. A. Dreijerink, Lodewijk A. A. Brosens in Nature Medicine (2019)

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    Enhancer signatures stratify and predict outcomes of non-functional pancreatic neuroendocrine tumors

    Most pancreatic neuroendocrine tumors (PNETs) do not produce excess hormones and are therefore considered ‘non-functional’13. As clinical behaviors vary widely and distant metastases are eventually lethal2,4, bi...

    Paloma Cejas, Yotam Drier, Koen M. A. Dreijerink, Lodewijk A. A. Brosens in Nature Medicine (2019)

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    Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types

    We introduce an approach to identify disease-relevant tissues and cell types by analyzing gene expression data together with genome-wide association study (GWAS) summary statistics. Our approach uses stratifie...

    Hilary K. Finucane, Yakir A. Reshef, Verneri Anttila, Kamil Slowikowski in Nature Genetics (2018)

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    Article

    Exposing the fitness contribution of duplicated genes

    Duplicate genes from the whole-genome duplication (WGD) in yeast are often dispensable—removing one copy has little or no phenotypic consequence1,2. It is unknown, however, whether such dispensability reflects in...

    Alexander DeLuna, Kalin Vetsigian, Noam Shoresh, Matthew Hegreness in Nature Genetics (2008)