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- Kuzuhara, Masayuki, et al.
(författare)
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Gliese 12 b: A Temperate Earth-sized Planet at 12 pc Ideal for Atmospheric Transmission Spectroscopy
- 2024
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Ingår i: Astrophysical Journal Letters. - 2041-8213 .- 2041-8205. ; 969:1
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Tidskriftsartikel (refereegranskat)abstract
- Recent discoveries of Earth-sized planets transiting nearby M dwarfs have made it possible to characterize the atmospheres of terrestrial planets via follow-up spectroscopic observations. However, the number of such planets receiving low insolation is still small, limiting our ability to understand the diversity of the atmospheric composition and climates of temperate terrestrial planets. We report the discovery of an Earth-sized planet transiting the nearby (12 pc) inactive M3.0 dwarf Gliese 12 (TOI-6251) with an orbital period (P(or)b) of 12.76 days. The planet, Gliese 12 b, was initially identified as a candidate with an ambiguous P-orb from TESS data. We confirmed the transit signal and P-orb using ground-based photometry with MuSCAT2 and MuSCAT3, and validated the planetary nature of the signal using high-resolution images from Gemini/NIRI and Keck/NIRC2 as well as radial velocity (RV) measurements from the InfraRed Doppler instrument on the Subaru 8.2 m telescope and from CARMENES on the CAHA 3.5 m telescope. X-ray observations with XMM-Newton showed the host star is inactive, with an X-ray-to-bolometric luminosity ratio of log L-X/L-bol approximate to - 5.7. Joint analysis of the light curves and RV measurements revealed that Gliese 12 b has a radius of 0.96 +/- 0.05 R-circle plus, a 3 sigma mass upper limit of 3.9M(circle plus), and an equilibrium temperature of 315 +/- 6 K assuming zero albedo. The transmission spectroscopy metric (TSM) value of Gliese 12 b is close to the TSM values of the TRAPPIST-1 planets, adding Gliese 12 b to the small list of potentially terrestrial, temperate planets amenable to atmospheric characterization with JWST.
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| 2. |
- Walsh, Roddy, et al.
(författare)
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Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls
- 2021
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Ingår i: Genetics in Medicine. - : Nature Publishing Group. - 1098-3600 .- 1530-0366. ; 23:1, s. 47-58
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: Stringent variant interpretation guidelines can lead to high rates of variants of uncertain significance (VUS) for genetically heterogeneous disease like long QT syndrome (LQTS) and Brugada syndrome (BrS). Quantitative and disease-specific customization of American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines can address this false negative rate.Methods: We compared rare variant frequencies from 1847 LQTS (KCNQ1/KCNH2/SCN5A) and 3335 BrS (SCN5A) cases from the International LQTS/BrS Genetics Consortia to population-specific gnomAD data and developed disease-specific criteria for ACMG/AMP evidence classes-rarity (PM2/BS1 rules) and case enrichment of individual (PS4) and domain-specific (PM1) variants.Results: Rare SCN5A variant prevalence differed between European (20.8%) and Japanese (8.9%) BrS patients (p = 5.7 x 10(-18)) and diagnosis with spontaneous (28.7%) versus induced (15.8%) Brugada type 1 electrocardiogram (ECG) (p = 1.3 x 10(-13)). Ion channel transmembrane regions and specific N-terminus (KCNH2) and C-terminus (KCNQ1/KCNH2) domains were characterized by high enrichment of case variants and >95% probability of pathogenicity. Applying the customized rules, 17.4% of European BrS and 74.8% of European LQTS cases had (likely) pathogenic variants, compared with estimated diagnostic yields (case excess over gnomAD) of 19.2%/82.1%, reducing VUS prevalence to close to background rare variant frequency.Conclusion: Large case-control data sets enable quantitative implementation of ACMG/AMP guidelines and increased sensitivity for inherited arrhythmia genetic testing.
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