The TESS-Keck Survey. II. An Ultra-Short-Period Rocky Planet And Its Siblings Transiting The Galactic Thick-Disk Star TOI-561

We report the discovery of TOI-561, a multiplanet system in the galactic thick disk that contains a rocky, ultra-short-period planet. This bright (V = 10.2) star hosts three small transiting planets identified in photometry from the NASA TESS mission: TOI-561 b (TOI-561.02, P = 0.44 days, Rp = 1.45 ± 0.11 R⊕), c (TOI-561.01, P = 10.8 days, Rp = 2.90 ± 0.13 R⊕), and d (TOI-561.03, P = 16.3 days, Rp = 2.32 ± 0.16 R⊕). The star is chemically ([Fe/H] = −0.41 ± 0.05, [α/Fe] = +0.23 ± 0.05) and kinematically consistent with the galactic thick-disk population, making TOI-561 one of the oldest (10 ± 3 Gyr) and most metal-poor planetary systems discovered yet. We dynamically confirm planets b and c with radial velocities from the W. M. Keck Observatory High Resolution Echelle Spectrometer. Planet b has a mass and density of 3.2 ± 0.8 M⊕ and ${5.5}_{-1.6}^{+2.0}$g cm−3, consistent with a rocky composition. Its lower-than-average density is consistent with an iron-poor composition, although an Earth-like iron-to-silicates ratio is not ruled out. Planet c is 7.0 ± 2.3 M⊕ and 1.6 ± 0.6 g cm−3, consistent with an interior rocky core overlaid with a low-mass volatile envelope. Several attributes of the photometry for planet d (which we did not detect dynamically) complicate the analysis, but we vet the planet with high-contrast imaging, ground-based photometric follow-up, and radial velocities. TOI-561 b is the first rocky world around a galactic thick-disk star confirmed with radial velocities and one of the best rocky planets for thermal emission studies

The TESS-Keck survey. II. An ultra-short-period rocky planet and its siblings transiting the galactic thick-disk star TOI-561

We report the discovery of TOI-561, a multiplanet system in the galactic thick disk that contains a rocky, ultrashort- period planet. This bright (V = 10.2) star hosts three small transiting planets identified in photometry from the NASA TESS mission: TOI-561 b (TOI-561.02, P = 0.44 days, Rp = 1.45 ± 0.11 R⊕), c (TOI-561.01, P = 10.8 days, Rp = 2.90 ± 0.13 R⊕), and d (TOI-561.03, P = 16.3 days, Rp = 2.32 ± 0.16 R⊕). The star is chemically ([Fe/ H] = -0.41 ± 0.05, [a/Fe]=+0.23 ± 0.05) and kinematically consistent with the galactic thick-disk population, making TOI-561 one of the oldest (10 ± 3 Gyr) and most metal-poor planetary systems discovered yet. We dynamically confirm planets b and c with radial velocities from the W. M. Keck Observatory High Resolution Echelle Spectrometer. Planet b has a mass and density of 3.2 ± 0.8M⊕ and 5.5+2.0-1.6g cm-3, consistent with a rocky composition. Its lower-than-average density is consistent with an iron-poor composition, although an Earth-like iron-to-silicates ratio is not ruled out. Planet c is 7.0 ± 2.3M⊕ and 1.6 ± 0.6 g cm-3, consistent with an interior rocky core overlaid with a low-mass volatile envelope. Several attributes of the photometry for planet d (which we did not detect dynamically) complicate the analysis, but we vet the planet with high-contrast imaging, groundbased photometric follow-up, and radial velocities. TOI-561 b is the first rocky world around a galactic thick-disk star confirmed with radial velocities and one of the best rocky planets for thermal emission studies

Diagnostic yield of a targeted gene panel in primary ciliary dyskinesia patients

We aimed to determine the diagnostic yield of a targeted-exome panel in a cohort of 74 Dutch primary ciliary dyskinesia (PCD) patients. The panel consisted of 26 PCD-related and 284 candidate genes. To prioritize PCD candidate genes, we investigated the transcriptome of human airway cells of 12 healthy volunteers during in vitro ciliogenesis and hypothesized that PCD-related genes show significant upregulation. We compared gene expression in epithelial precursor cells grown as collagen monolayer and ciliated cells grown in suspension by RNA sequencing. All genes reported as PCD causative, except NME8, showed significant upregulation during in vitro ciliogenesis. We observed 67.6% diagnostic yield when testing the targeted-exome panel in our cohort. There was relatively high percentage of DNAI and HYDIN mutations compared to other countries. The latter may be due to our solution for the problem of the confounding HYDIN2 pseudogene. Candidate genes included two recently published PCD-related genes DNAJB13 and PIH1D3; identification of the latter was a direct result of this study. In conclusion, we demonstrate 67.6% diagnostic yield by targeted exome sequencing in a Dutch PCD population and present a highly sensitive and moderately specific approach for identification of PCD-related genes, based on significant upregulation during in vitro ciliogenesis