Statistical Claim Checking: StatCheck in Action (demonstration)

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Identification of novel APOB mutations by targeted next-generation sequencing for the molecular diagnosis of familial hypobetalipoproteinemia

International audienceFamilial hypobetalipoproteinemia (FHBL) is a co-dominant disorder characterized by decreased plasma levels of LDL-cholesterol and apolipoprotein B (ApoB). Currently, genetic diagnosis in FHBL relies largely on Sanger sequencing to identify APOB and PCSK9 gene mutations and on western blotting to detect truncated ApoB species

Statistical Claim Checking: StatCheck in Action (demonstration)

International audienc

Fact-checking Multidimensional Statistic Claims in French

International audienc

Fact-checking Multidimensional Statistic Claims in French

International audienceTo strengthen public trust and counter disinformation, computational fact-checking, leveraging digital data sources, attracts interest from the journalists and the computer science community. A particular class of interesting data sources comprises statistics, that is, numerical data compiled mostly by governments, administrations, and international organizations. Statistics are often multidimensional datasets, where multiple dimensions characterize one value, and the dimensions may be organized in hierarchies. This paper describes STATCHECK, a statistic fact-checking system jointly developed by the authors, which are either computer science researchers or fact-checking journalists working for a French-language media with a daily audience of more than 15 millions (aud, 2022). The technical novelty of STATCHECK is twofold: (i) we focus on multidimensional, complex-structure statistics, which have received little attention so far, despite their practical importance; and (ii) novel statistical claim extraction modules for French, an area where few resources exist. We validate the efficiency and quality of our system onlarge statistic datasets (hundreds of millions of facts), including the complete INSEE (French)and Eurostat (European Union) datasets, as well as French presidential election debates

Identification of novel APOB mutations by targeted next-generation sequencing for the molecular diagnosis of familial hypobetalipoproteinemia

International audienceBACKGROUND AND AIMS: Familial hypobetalipoproteinemia (FHBL) is a co-dominant disorder characterized by decreased plasma levels of LDL-cholesterol and apolipoprotein B (ApoB). Currently, genetic diagnosis in FHBL relies largely on Sanger sequencing to identify APOB and PCSK9 gene mutations and on western blotting to detect truncated ApoB species. METHODS: Here, we applied targeted enrichment and next-generation sequencing (NGS) on a panel of three FHBL genes and two abetalipoproteinemia genes (APOB, PCSK9, ANGPTL3, MTTP and SAR1B). RESULTS: In this study, we identified five likely pathogenic heterozygous rare variants. These include four novel nonsense mutations in APOB (p.Gln845*, p.Gln2571*, p.Cys2933* and p.Ser3718*) and a rare variant in PCSK9 (Minor Allele Frequency \textless0.1%). The affected family members tested were shown to be carriers, suggesting co-segregation with low LDL-C. CONCLUSIONS: Our study further demonstrates that NGS is a reliable and practical approach for the molecular screening of FHBL-causative genes that may provide a mean for deciphering the genetic basis in FHBL