39 research outputs found
Pathogenic Germline Variants in 10,389 Adult Cancers
We conducted the largest investigation of predisposition variants in cancer to date, discovering 853 pathogenic or likely pathogenic variants in 8% of 10,389 cases from 33 cancer types. Twenty-one genes showed single or cross-cancer associations, including novel associations of SDHA in melanoma and PALB2 in stomach adenocarcinoma. The 659 predisposition variants and 18 additional large deletions in tumor suppressors, including ATM, BRCA1, and NF1, showed low gene expression and frequent (43%) loss of heterozygosity or biallelic two-hit events. We also discovered 33 such variants in oncogenes, including missenses in MET, RET, and PTPN11 associated with high gene expression. We nominated 47 additional predisposition variants from prioritized VUSs supported by multiple evidences involving case-control frequency, loss of heterozygosity, expression effect, and co-localization with mutations and modified residues. Our integrative approach links rare predisposition variants to functional consequences, informing future guidelines of variant classification and germline genetic testing in cancer. A pan-cancer analysis identifies hundreds of predisposing germline variants
IODP Expedition 363 Inorganic carbon (coulometer)
Inorganic carbon (carbonate) is determined by coulometry, which uses a photodetection cell to measure carbon dioxide evolved during sample acidification. Report includes percent inorganic carbon and calcium carbonate
IODP Expedition 363 P-wave velocity caliper (section/discrete)
P-wave velocity data were measured on undisturbed section halves (JRSO-defined x-axis) and/or discrete cube and cylinder samples (x, y, or z-axis) using pairs of piezoelectric transducers mounted on a caliper system. Report includes P-wave velocity in x, y, and/or z-direction, caliper separation, traveltime between transucers, and first arrival picks
IODP Expedition 363 Color reflectance
Color reflectance data were measured on section halves using an integration sphere and a UV-VIS spectrophotometer mounted on the Section Half Multisensor Logger (SHMSL). Spectral counts are recorded in the range of 380 to 700 nm, covering the visible spectrum, and binned in ~2 nm bins. Spectral data are reduced from spectra and recorded in tristimulus XYZ values, CieLAB L*a*b* values, and other units
IODP Expedition 363 Core composite images
A digital composite image (PNG) is made for each core comprising core sections scanned using a line-scan camera. The composite layout is equivalent to traditional core table photos. Top left is top of core; color and meter rule references are included
IODP Expedition 363 Core summary
Report includes detailed core data: drilling and coring depths, advancement, recovered core length measured on the catwalk and final curated length, core recovery, and sections cut
IODP Expedition 363 Micropaleontology
Paleontological data were collected using microscopes and recorded in the JRSO description software. All data for a species group (e.g., diatoms or nannofossils) were collected in a Microsoft Excel worksheet by hole. A zip file of the entire expedition's observations is also available
IODP Expedition 363 Gas safety report
This composite report returns data from two different gas chromatograph configurations (GC3 and NGA). Each row combines data from several measurements made on the same sample at the same time for a particular headspace or vacutainer sample. If data do not exist for a particular expedition, the column does not appear. Gas samples were measured by gas chromatography and either flame ionization detection (GC-FID) or thermal conductivity detection (GC-TCD). Reported analytes may include methane, ethane, ethene, propane, propene, n-butane, i-butane, n-pentane, i-pentane, n-hexane, i-hexane, n-heptane, i-heptane, nitrogen, oxygen, carbon monoxide, carbon dioxide, and hydrogen sulfide. When data are available, methane to (ethane + ethene) ratio (C<sub>1</sub>/C<sub>2</sub>�ratio) is reported. To identify individual samples and tests, see each separate analysis (GC3, NGAFID, and/or NGATCD)
IODP Expedition 363 ICP-AES elemental analysis (interstitial water)
Elemental concentration in interstitial water samples was measured by inductively coupled plasma - atomic emission spectroscopy (ICP-AES). Data are presented by element-wavelength pair (e.g., more than one calcium line may be reported). Elemental lines for which data do not exist for a particular expedition will not appear