2 research outputs found
Additional file 1: Table S1. of Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort
DSD gene variants. Each variant found in a diagnostic gene (after the filtering and curation process) is shown. In some cases where the gene is inherited in an autosomal recessive manner, two variants are grouped together. Inheritance has been indicated where familial samples were available: negative indicates negative for variant and N/A sample not available. De novo events have only been noted where both parental samples were available and found to be negative for the change. Previously reported refers to a variant being described in either ClinVar, HGMD, or a publication in a peer-reviewed journal via a PubMed search. Variants were classified consistent with previous MPS publications of DSD cohorts [8, 10] which were based on ACMG guidelines [15]. VUS were called for three reasons: 1 = fits phenotype but predicted to be benign; 2 = damaging but doesn’t fit phenotype; or 3 = variant in the AR repetitive region. Patients marked with an asterisk were identified to have two or more diagnostic gene variants. Null variants (frameshifts, splice sites mutations, and premature stop codons) are shown in bold. Patients have been classified based on clinical notes provided, according to the recommended classification of DSD in the Chicago consensus report. Classifications: CGD complete gonadal dysgenesis, DASA disorders of androgen synthesis or action, DSD DSD of “unknown” origin; hypospadias, LCH Leydig cell hypoplasia, OT ovotesticular DSD, PGD partial gonadal dysgenesis, PMDS persistent Müllerian duct syndrome; syndromic, T testicular DSD. Related affected individuals are indicated. File is in Excel spreadsheet format. (XLSX 47 kb
Surface Ocean CO2 Atlas (SOCAT) V6
The Surface Ocean CO2 Atlas (SOCAT) is a synthesis activity by the international marine carbon research community (>100 contributors). SOCAT version 6 has 23.4 million quality-controlled, surface ocean fCO2 (fugacity of carbon dioxide) observations from 1957 to 2017 for the global oceans and coastal seas. Calibrated sensor data are also available. Automation allows annual, public releases. SOCAT data is discoverable, accessible and citable. SOCAT enables quantification of the ocean carbon sink and ocean acidification and evaluation of ocean biogeochemical models. SOCAT represents a milestone in biogeochemical and climate research and in informing policy. 424 datasets Version 5: https://doi.pangaea.de/10.1594/PANGAEA.877863 Version 4: https://doi.pangaea.de/10.1594/PANGAEA.866856 Version 3: https://doi.pangaea.de/10.1594/PANGAEA.849770 Version 2: https://doi.org/10.1594/PANGAEA.81515