Small but strong: Mutational and functional landscapes of micronuclei in cancer genomes
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DOI: 10.1002/ijc.33300
Abstract: Micronuclei, small spatially‐separated, nucleus‐like structures, are a common feature of human cancer cells. There are considerable heterogeneities in the sources, structures and genetic activities of micronuclei. Accumulating evidence suggests that micronuclei and main nuclei represent… read more here.
Keywords: mutational functional; functional landscapes; strong mutational; cancer ... See more keywords
Proteome-Scale Investigation of Protein Allosteric Regulation Perturbed by Somatic Mutations in 7,000 Cancer Genomes.
Sign Up to like & getrecommendations! Published in 2017 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2016.09.020
Abstract: The allosteric regulation triggering the protein's functional activity via conformational changes is an intrinsic function of protein under many physiological and pathological conditions, including cancer. Identification of the biological effects of specific somatic variants on allosteric… read more here.
Keywords: cancer; cancer genomes; allosteric regulation; protein allosteric ... See more keywords
AACR makes public 19,000 cancer genomes
Sign Up to like & getrecommendations! Published in 2017 at "Nature Biotechnology"
DOI: 10.1038/nbt0217-104
Abstract: “If [Trump] has the stamina he will see two things... the American public is being taken advantage of. And secondly, we are funding the R&D for free riders across the world. And I don’t think… read more here.
Keywords: makes public; 000 cancer; public 000; cancer genomes ... See more keywords
Identification of large rearrangements in cancer genomes with barcode linked reads
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DOI: 10.1093/nar/gkx1193
Abstract: Abstract Large genomic rearrangements involve inversions, deletions and other structural changes that span Megabase segments of the human genome. This category of genetic aberration is the cause of many hereditary genetic disorders and contributes to… read more here.
Keywords: rearrangements cancer; identification large; cancer; cancer genomes ... See more keywords
Comprehensive analysis of structural variants in breast cancer genomes using single-molecule sequencing.
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DOI: 10.1101/gr.260497.119
Abstract: Improved identification of structural variants (SVs) in cancer can lead to more targeted and effective treatment options as well as advance our basic understanding of the disease and its progression. We performed whole-genome sequencing of… read more here.
Keywords: long read; structural variants; breast cancer; cancer ... See more keywords
The paradox of mutations and cancer
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DOI: 10.1126/science.aav5697
Abstract: Esophageal tissue often contains driver mutations in people without cancer The past decade has witnessed the cataloging of genetic mutations in cancer genomes, providing new insights into how and in what ways cancer can develop… read more here.
Keywords: paradox mutations; mutations cancer; cancer; cancer genomes ... See more keywords
Abstract LB-262: A somatic-mutational process in breast cancer genomes recurrently duplicates germline susceptibility loci and tissue-specific super-enhancers
Sign Up to like & getrecommendations! Published in 2017 at "Cancer Research"
DOI: 10.1158/1538-7445.am2017-lb-262
Abstract: Somatic rearrangements are a part of mutational landscape of human cancer genomes. We systematically investigated the distribution of the somatic rearrangements in 560 breast cancer genomes and highlight 33 rearrangement hotspots associated with a signature… read more here.
Keywords: susceptibility; breast; breast cancer; cancer ... See more keywords
Depletion of somatic mutations in splicing-associated sequences in cancer genomes
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DOI: 10.1186/s13059-017-1337-5
Abstract: BackgroundAn important goal of cancer genomics is to identify systematically cancer-causing mutations. A common approach is to identify sites with high ratios of non-synonymous to synonymous mutations; however, if synonymous mutations are under purifying selection,… read more here.
Keywords: selection; somatic mutations; lower ssm; ssm density ... See more keywords
Integrated structural variation and point mutation signatures in cancer genomes using correlated topic models
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DOI: 10.1371/journal.pcbi.1006799
Abstract: Mutation signatures in cancer genomes reflect endogenous and exogenous mutational processes, offering insights into tumour etiology, features for prognostic and biologic stratification and vulnerabilities to be exploited therapeutically. We present a novel machine learning formalism… read more here.
Keywords: correlated topic; mutation signatures; signatures cancer; cancer ... See more keywords