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"Tatsuhiko", "initials": "T"}, {"family": "Namkoong", "given": "Ho", "initials": "H", "orcid": "0000-0001-6181-4284", "researcher": {"href": "https://publications.scilifelab.se/researcher/e9341eed6713468fbe38b03557824405.json"}}, {"family": "Edahiro", "given": "Ryuya", "initials": "R"}, {"family": "Kimura", "given": "Akinori", "initials": "A"}, {"family": "Ogawa", "given": "Seishi", "initials": "S", "orcid": "0000-0002-7778-5374", "researcher": {"href": "https://publications.scilifelab.se/researcher/fbcc3b1b5f3045a7acd123222445449d.json"}}, {"family": "Kanai", "given": "Takanori", "initials": "T"}, {"family": "Fukunaga", "given": "Koichi", "initials": "K"}, {"family": "Okada", "given": "Yukinori", "initials": "Y", "orcid": "0000-0002-0311-8472", "researcher": {"href": "https://publications.scilifelab.se/researcher/40b13860bfef41959c29be2de853b456.json"}}, {"family": "Imoto", "given": "Seiya", "initials": "S"}, {"family": "Miyano", "given": "Satoru", "initials": "S", "orcid": "0000-0002-1753-6616", "researcher": {"href": "https://publications.scilifelab.se/researcher/76e65512044c4965863ed41ef8aadd31.json"}}, {"family": "Mangul", "given": "Serghei", "initials": "S", "orcid": "0000-0003-4770-3443", "researcher": {"href": "https://publications.scilifelab.se/researcher/e35a4535909643b2a532d3622f57e10f.json"}}, {"family": "Abedalthagafi", "given": "Malak S", "initials": "MS", "orcid": "0000-0003-2088-3632", "researcher": {"href": "https://publications.scilifelab.se/researcher/8dbb9410a1394132a0979e7cde5d1635.json"}}, {"family": "Zeberg", "given": "Hugo", "initials": "H", "orcid": "0000-0001-7118-1249", "researcher": {"href": "https://publications.scilifelab.se/researcher/090e842ed8ff4cf2a3fe5f8e58118e58.json"}}, {"family": "Grzymski", "given": "Joseph J", "initials": "JJ", "orcid": "0000-0003-2646-8958", "researcher": {"href": "https://publications.scilifelab.se/researcher/d309c535c04f40b39068df41546df2ab.json"}}, {"family": "Washington", "given": "Nicole L", "initials": "NL"}, {"family": "Ossowski", "given": "Stephan", "initials": "S", "orcid": "0000-0002-7416-9568", "researcher": {"href": "https://publications.scilifelab.se/researcher/0df302939f5c4456927afdff5bdfb2eb.json"}}, {"family": "Ludwig", "given": "Kerstin U", "initials": "KU", "orcid": "0000-0002-8541-2519", "researcher": {"href": "https://publications.scilifelab.se/researcher/d9e2b9bc9d114c93a4a545e5d6477ae0.json"}}, {"family": "Schulte", "given": "Eva C", "initials": "EC", "orcid": "0000-0003-3105-5672", "researcher": {"href": "https://publications.scilifelab.se/researcher/2443ead1e9564eb5a991ce8dfa7e851f.json"}}, {"family": "Riess", "given": "Olaf", "initials": "O"}, {"family": "Moniuszko", "given": "Marcin", "initials": "M"}, {"family": "Kwasniewski", "given": "Miroslaw", "initials": "M"}, {"family": "Mbarek", "given": "Hamdi", "initials": "H", "orcid": "0000-0002-1108-0371", "researcher": {"href": "https://publications.scilifelab.se/researcher/a50439a056e94688a64751e2bdc7c502.json"}}, {"family": "Ismail", "given": "Said I", "initials": "SI"}, {"family": "Verma", "given": "Anurag", "initials": "A", "orcid": "0000-0002-5063-9107", "researcher": {"href": "https://publications.scilifelab.se/researcher/556096ea8651491caa5daf52e10f79da.json"}}, {"family": "Goldstein", "given": "David B", "initials": "DB", "orcid": "0000-0001-7627-0259", "researcher": {"href": "https://publications.scilifelab.se/researcher/6e797709a3f9473c851d79ababa3e680.json"}}, {"family": "Kiryluk", "given": "Krzysztof", "initials": "K", "orcid": "0000-0002-5047-6715", "researcher": {"href": "https://publications.scilifelab.se/researcher/b6e7b5668c0141728599d5ebb68c8929.json"}}, {"family": "Renieri", "given": "Alessandra", "initials": "A", "orcid": "0000-0002-0846-9220", "researcher": {"href": "https://publications.scilifelab.se/researcher/3dbf990f1e0c4fd99e45c945915f25b0.json"}}, {"family": "Ferreira", "given": "Manuel A R", "initials": "MAR", "orcid": "0000-0001-9059-1825", "researcher": {"href": "https://publications.scilifelab.se/researcher/d27aef5015494b018b22352125c0225d.json"}}, {"family": "Richards", "given": "J Brent", "initials": "JB", "orcid": "0000-0002-3746-9086", "researcher": {"href": "https://publications.scilifelab.se/researcher/c2c20c901fd041c194dae79b29b94ec2.json"}}], "type": "journal article", "published": "2022-11-00", "journal": {"title": "PLoS Genet.", "issn": "1553-7404", "issn-l": "1553-7390", "volume": "18", "issue": "11", "pages": "e1010367"}, "abstract": "Host genetics is a key determinant of COVID-19 outcomes. Previously, the COVID-19 Host Genetics Initiative genome-wide association study used common variants to identify multiple loci associated with COVID-19 outcomes. However, variants with the largest impact on COVID-19 outcomes are expected to be rare in the population. Hence, studying rare variants may provide additional insights into disease susceptibility and pathogenesis, thereby informing therapeutics development. Here, we combined whole-exome and whole-genome sequencing from 21 cohorts across 12 countries and performed rare variant exome-wide burden analyses for COVID-19 outcomes. In an analysis of 5,085 severe disease cases and 571,737 controls, we observed that carrying a rare deleterious variant in the SARS-CoV-2 sensor toll-like receptor TLR7 (on chromosome X) was associated with a 5.3-fold increase in severe disease (95% CI: 2.75-10.05, p = 5.41x10-7). This association was consistent across sexes. These results further support TLR7 as a genetic determinant of severe disease and suggest that larger studies on rare variants influencing COVID-19 outcomes could provide additional insights.", "doi": "10.1371/journal.pgen.1010367", "pmid": "36327219", "labels": {"NGI Short read": "Collaborative", "NGI Uppsala (SNP&SEQ Technology Platform)": "Collaborative", "National Genomics Infrastructure": "Collaborative"}, "xrefs": [{"db": "pmc", "key": "PMC9632827"}, {"db": "pii", "key": "PGENETICS-D-22-00434"}], "notes": [], "created": "2022-11-29T14:02:16.675Z", "modified": "2023-06-16T12:55:14.973Z"}, {"entity": "publication", "iuid": "bd1a87d416a44b78b1e5b21dd61f2b66", "links": {"self": {"href": "https://publications.scilifelab.se/publication/bd1a87d416a44b78b1e5b21dd61f2b66.json"}, "display": {"href": "https://publications.scilifelab.se/publication/bd1a87d416a44b78b1e5b21dd61f2b66"}}, "title": "Sex differences in oncogenic mutational processes.", "authors": [{"family": "Li", "given": "Constance H", "initials": "CH", "orcid": "0000-0002-5487-7225", "researcher": {"href": "https://publications.scilifelab.se/researcher/c1b145ea074a457288ef97554becf7df.json"}}, {"family": "Prokopec", "given": "Stephenie D", "initials": "SD", "orcid": "0000-0001-7936-8577", "researcher": {"href": "https://publications.scilifelab.se/researcher/be46453f056f42fe8a35c0a72201d7e4.json"}}, {"family": "Sun", "given": "Ren X", "initials": "RX"}, {"family": "Yousif", "given": "Fouad", "initials": "F"}, {"family": "Schmitz", "given": "Nathaniel", "initials": "N"}, {"family": "PCAWG Tumour Subtypes and Clinical Translation", "given": "", "initials": ""}, {"family": "Boutros", "given": "Paul C", "initials": "PC", "orcid": "0000-0003-0553-7520", "researcher": {"href": "https://publications.scilifelab.se/researcher/9f627e3789d04a28aa270a5873c5f20b.json"}}, {"family": "PCAWG Consortium", "given": "", "initials": ""}], "type": "journal article", "published": "2020-08-28", "journal": {"title": "Nat Commun", "issn": "2041-1723", "volume": "11", "issue": "1", "pages": "4330", "issn-l": "2041-1723"}, "abstract": "Sex differences have been observed in multiple facets of cancer epidemiology, treatment and biology, and in most cancers outside the sex organs. Efforts to link these clinical differences to specific molecular features have focused on somatic mutations within the coding regions of the genome. Here we report a pan-cancer analysis of sex differences in whole genomes of 1983 tumours of 28 subtypes as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium. We both confirm the results of exome studies, and also uncover previously undescribed sex differences. These include sex-biases in coding and non-coding cancer drivers, mutation prevalence and strikingly, in mutational signatures related to underlying mutational processes. These results underline the pervasiveness of molecular sex differences and strengthen the call for increased consideration of sex in molecular cancer research.", "doi": "10.1038/s41467-020-17359-2", "pmid": "32859912", "labels": {"Clinical Genomics Uppsala": "Service", "Clinical Genomics": "Service"}, "xrefs": [{"db": "pii", "key": "10.1038/s41467-020-17359-2"}, {"db": "pmc", "key": "PMC7455744"}], "notes": [], "created": "2020-12-10T14:46:49.399Z", "modified": "2021-11-10T12:47:52.388Z"}]}