Uncorrelated Volatile Behavior during the 2011 Apparition of Comet C/2009 P1 Garradd

The High Resolution Instrument Infrared Spectrometer (HRI-IR) on board the Deep Impact Flyby spacecraft detected H2O, CO2, and CO in the coma of the dynamically young Oort Cloud comet C/2009 P1 (Garradd) post-perihelion at a heliocentric distance of 2 AU. Production rates were derived for the parent volatiles, Q_(H2O) = 4.6 ± 0.8 × 10^(28), Q_(CO2) = 3.9 ± 0.7 × 10^(27), and Q_(CO) = 2.9 ± 0.8 × 10^(28) molecules s^(–1), and are consistent with the trends seen by other observers and within the error bars of measurements acquired during a similar time period. When compiled with other observations of Garradd's dominant volatiles, unexpected behavior was seen in the release of CO. Garradd's H_2O outgassing, increasing and peaking pre-perihelion and then steadily decreasing, is more typical than that of CO, which monotonically increased throughout the entire apparition. Due to the temporal asymmetry in volatile release, Garradd exhibited the highest CO to H_2O abundance ratio ever observed for any comet inside the water snow line at ~60% during the HRI-IR observations. Also, the HRI-IR made the only direct measurement of CO_2, giving a typical cometary abundance ratio of CO_2 to H_2O of 8% but, with only one measurement, no sense of how it varied with orbital position

Scalable whole-exome sequencing of cell-free DNA reveals high concordance with metastatic tumors

Whole-exome sequencing of cell-free DNA (cfDNA) could enable comprehensive profiling of tumors from blood but the genome-wide concordance between cfDNA and tumor biopsies is uncertain. Here we report ichorCNA, software that quantifies tumor content in cfDNA from 0.1× coverage whole-genome sequencing data without prior knowledge of tumor mutations. We apply ichorCNA to 1439 blood samples from 520 patients with metastatic prostate or breast cancers. In the earliest tested sample for each patient, 34% of patients have ≥10% tumor-derived cfDNA, sufficient for standard coverage whole-exome sequencing. Using whole-exome sequencing, we validate the concordance of clonal somatic mutations (88%), copy number alterations (80%), mutational signatures, and neoantigens between cfDNA and matched tumor biopsies from 41 patients with ≥10% cfDNA tumor content. In summary, we provide methods to identify patients eligible for comprehensive cfDNA profiling, revealing its applicability to many patients, and demonstrate high concordance of cfDNA and metastatic tumor whole-exome sequencing

Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humanS

In this Article, author Marquis P. Vawter was missing from the Genome Aggregation Database Consortium list. They are associated with the affiliation: ‘Department of Psychiatry & Human Behavior, University of California Irvine, Irvine, CA, USA’, and contributed to the generation of the primary data incorporated into the gnomAD resource. In addition, in the legend to Fig. 1, ‘ten’ should have been ‘seven’ in the sentence: “a, Uniform manifold approximation and projection (UMAP)46,47 plot depicting the ancestral diversity of all individuals in gnomAD, using seven principal components.” The original Article has been corrected online

Author Correction: Transcript expression-aware annotation improves rare variant interpretation

In this Article, author Marquis P. Vawter was missing from the Genome Aggregation Database Consortium list. They are associated with the affiliation: ‘Department of Psychiatry & Human Behavior, University of California Irvine, Irvine, CA, USA’, and contributed to the generation of the primary data incorporated into the gnomAD resource. The original Article has been corrected online