Effects of eight neuropsychiatric copy number variants on human brain structure

peer reviewedMany copy number variants (CNVs) confer risk for the same range of neurodevelopmental symptoms and psychiatric conditions including autism and schizophrenia. Yet, to date neuroimaging studies have typically been carried out one mutation at a time, showing that CNVs have large effects on brain anatomy. Here, we aimed to characterize and quantify the distinct brain morphometry effects and latent dimensions across 8 neuropsychiatric CNVs. We analyzed T1-weighted MRI data from clinically and non-clinically ascertained CNV carriers (deletion/duplication) at the 1q21.1 (n = 39/28), 16p11.2 (n = 87/78), 22q11.2 (n = 75/30), and 15q11.2 (n = 72/76) loci as well as 1296 non-carriers (controls). Case-control contrasts of all examined genomic loci demonstrated effects on brain anatomy, with deletions and duplications showing mirror effects at the global and regional levels. Although CNVs mainly showed distinct brain patterns, principal component analysis (PCA) loaded subsets of CNVs on two latent brain dimensions, which explained 32 and 29% of the variance of the 8 Cohen’s d maps. The cingulate gyrus, insula, supplementary motor cortex, and cerebellum were identified by PCA and multi-view pattern learning as top regions contributing to latent dimension shared across subsets of CNVs. The large proportion of distinct CNV effects on brain morphology may explain the small neuroimaging effect sizes reported in polygenic psychiatric conditions. Nevertheless, latent gene brain morphology dimensions will help subgroup the rapidly expanding landscape of neuropsychiatric variants and dissect the heterogeneity of idiopathic conditions. © 2021, The Author(s)

Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries

10.1038/s41467-020-20851-4Nature Communications121125

All-sky search in early O3 LIGO data for continuous gravitational-wave signals from unknown neutron stars in binary systems

International audienceRapidly spinning neutron stars are promising sources of continuous gravitational waves. Detecting such a signal would allow probing of the physical properties of matter under extreme conditions. A significant fraction of the known pulsar population belongs to binary systems. Searching for unknown neutron stars in binary systems requires specialized algorithms to address unknown orbital frequency modulations. We present a search for continuous gravitational waves emitted by neutron stars in binary systems in early data from the third observing run of the Advanced LIGO and Advanced Virgo detectors using the semicoherent, GPU-accelerated, binaryskyhough pipeline. The search analyzes the most sensitive frequency band of the LIGO detectors, 50–300 Hz. Binary orbital parameters are split into four regions, comprising orbital periods of three to 45 days and projected semimajor axes of two to 40 light seconds. No detections are reported. We estimate the sensitivity of the search using simulated continuous wave signals, achieving the most sensitive results to date across the analyzed parameter space

Search for Lensing Signatures in the Gravitational-Wave Observations from the First Half of LIGO–Virgo’s Third Observing Run

International audienceWe search for signatures of gravitational lensing in the gravitational-wave signals from compact binary coalescences detected by Advanced Laser Interferometer Gravitational-wave Observatory (LIGO) and Advanced Virgo during O3a, the first half of their third observing run. We study: (1) the expected rate of lensing at current detector sensitivity and the implications of a non-observation of strong lensing or a stochastic gravitational-wave background on the merger-rate density at high redshift; (2) how the interpretation of individual high-mass events would change if they were found to be lensed; (3) the possibility of multiple images due to strong lensing by galaxies or galaxy clusters; and (4) possible wave-optics effects due to point-mass microlenses. Several pairs of signals in the multiple-image analysis show similar parameters and, in this sense, are nominally consistent with the strong lensing hypothesis. However, taking into account population priors, selection effects, and the prior odds against lensing, these events do not provide sufficient evidence for lensing. Overall, we find no compelling evidence for lensing in the observed gravitational-wave signals from any of these analyses

Searches for continuous gravitational waves from young supernova remnants in the early third observing run of Advanced LIGO and Virgo

We present results of three wide-band directed searches for continuous gravitational waves from 15 young supernova remnants in the first half of the third Advanced LIGO and Virgo observing run. We use three search pipelines with distinct signal models and methods of identifying noise artifacts. Without ephemerides of these sources, the searches are conducted over a frequency band spanning from 10~Hz to 2~kHz. We find no evidence of continuous gravitational radiation from these sources. We set upper limits on the intrinsic signal strain at 95% confidence level in sample sub-bands, estimate the sensitivity in the full band, and derive the corresponding constraints on the fiducial neutron star ellipticity and $r$-mode amplitude. The best 95% confidence constraints placed on the signal strain are $7.7\times 10^{-26}$ and $7.8\times 10^{-26}$ near 200~Hz for the supernova remnants G39.2--0.3 and G65.7+1.2, respectively. The most stringent constraints on the ellipticity and $r$-mode amplitude reach $\lesssim 10^{-7}$ and $\lesssim 10^{-5}$, respectively, at frequencies above $\sim 400$~Hz for the closest supernova remnant G266.2--1.2/Vela Jr