17 research outputs found

    Pathogenic Germline Variants in 10,389 Adult Cancers

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    We conducted the largest investigation of predisposition variants in cancer to date, discovering 853 pathogenic or likely pathogenic variants in 8% of 10,389 cases from 33 cancer types. Twenty-one genes showed single or cross-cancer associations, including novel associations of SDHA in melanoma and PALB2 in stomach adenocarcinoma. The 659 predisposition variants and 18 additional large deletions in tumor suppressors, including ATM, BRCA1, and NF1, showed low gene expression and frequent (43%) loss of heterozygosity or biallelic two-hit events. We also discovered 33 such variants in oncogenes, including missenses in MET, RET, and PTPN11 associated with high gene expression. We nominated 47 additional predisposition variants from prioritized VUSs supported by multiple evidences involving case-control frequency, loss of heterozygosity, expression effect, and co-localization with mutations and modified residues. Our integrative approach links rare predisposition variants to functional consequences, informing future guidelines of variant classification and germline genetic testing in cancer. A pan-cancer analysis identifies hundreds of predisposing germline variants

    Replica Shuffled Iterative Decoding

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    Replica shuffled versions of iterative decoders of turbo codes, low-density parity-check codes and turbo product codes are presented. The proposed schemes converge faster than standard and previously proposed "shuffled" approaches. Simulations show that the new schedules offer good performance versus complexity/latency trade-offs

    Big Data Analytics in Intelligent Transportation Systems: A Survey

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    Big data is becoming a research focus in intelligent transportation systems (ITS), which can be seen in many projects around the world. Intelligent transportation systems will produce a large amount of data. The produced big data will have profound impacts on the design and application of intelligent transportation systems, which makes ITS safer, more efficient, and profitable. Studying big data analytics in ITS is a flourishing field. This paper first reviews the history and characteristics of big data and intelligent transportation systems. The framework of conducting big data analytics in ITS is discussed next, where the data source and collection methods, data analytics methods and platforms, and big data analytics application categories are summarized. Several case studies of big data analytics applications in intelligent transportation systems, including road traffic accidents analysis, road traffic flow prediction, p
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