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The time is right for biologists to post their research findings onto preprint servers A preprint is a complete scientific manuscript (often one also being submitted to a peer-reviewed journal) that is uploaded by the authors to a public server without formal review. After a brief inspection to ensure that the work is scientific in nature, the posted scientific manuscript can be viewed without charge on the Web. Thus, preprint servers facilitate the direct and open delivery of new knowledge and concepts to the worldwide scientific community before traditional validation through peer review ( 1 , 2 ). Although the preprint server arXiv.org has been essential for physics, mathematics, and computer sciences for over two decades, preprints are currently used minimally in biology.

To characterize the clinical phenotype of the recurrent copy-number variation (CNV) at 1q21.1, we assessed the psychiatric and medical phenotypes of 1q21.1 deletion and duplication carriers ascertained through clinical genetic testing and family member cascade testing, with particular emphasis on dimensional assessment across multiple functional domains. Nineteen individuals with 1q21.1 deletion, 19 individuals with the duplication, and 23 familial controls (noncarrier siblings and parents) spanning early childhood through adulthood were evaluated for psychiatric, neurologic, and other medical diagnoses, and their cognitive, adaptive, language, motor, and neurologic domains were also assessed. Twenty-eight individuals with 1q21.1 CNVs (15 deletion, 13 duplication) underwent structural magnetic resonance brain imaging. Probands with 1q21.1 CNVs presented with a range of psychiatric, neurologic, and medical disorders. Deletion and duplication carriers shared several features, including borderline cognitive functioning, impaired fine and gross motor functioning, articulation abnormalities, and hypotonia. Increased frequency of Autism Spectrum Disorder (ASD) diagnosis, increased ASD symptom severity, and increased prevalence of macrocephaly were observed in the duplication relative to deletion carriers, whereas reciprocally increased prevalence of microcephaly was observed in the deletion carriers. Individuals with 1q21.1 deletions or duplications exhibit consistent deficits on motor and cognitive functioning and abnormalities in head circumference.

The 16p11.2 duplication (BP4–BP5) is associated with Autism Spectrum Disorder (ASD), although significant heterogeneity exists. Quantitative ASD, behavioral and neuropsychological measures and DSM-IV diagnoses in child and adult carriers were compared with familial non-carrier controls, and to published results from deletion carriers. The 16p11.2 duplication phenotype ranges widely from asymptomatic presentation to significant disability. The most common diagnoses were intellectual disability, motor delays and Attention Deficit Hyperactivity Disorder in children, and anxiety in adults. ASD occurred in nearly 20 % of child cases, but a majority of carriers did not show the unique social features of ASD. The 16p11.2 duplication phenotype is characterized by wider variability than the reciprocal deletion, likely reflecting contributions from additional risk factors.

Taste and smell contribute critically to our experience of our environment, from the pleasure of eating to the formation of childhood memories. Despite this, research into chemical sensing historically took a back seat to vision and audition, challenged by the complexities of indefinable stimuli that are often not even consciously processed, and by difficulties in uncovering even the basic mechanisms of transduction and representation.

Peer review is an important part of the scientific process, but traditional peer review at journals is coming under increased scrutiny for its inefficiency and lack of transparency. As preprints become more widely used and accepted, they raise the possibility of rethinking the peer-review process. Preprints are enabling new forms of peer review that have the potential to be more thorough, inclusive, and collegial than traditional journal peer review, and to thus fundamentally shift the culture of peer review toward constructive collaboration. In this Consensus View, we make a call to action to stakeholders in the community to accelerate the growing momentum of preprint sharing and provide recommendations to empower researchers to provide open and constructive peer review for preprints.

Wearable and nearable devices offer a novel opportunity to measure extensive behavioral and neurophysiological data directly from participants in their home environment. The Simons Sleep Project (SSP) was designed to accelerate research into sleep and daily behaviors in individuals with autism using such techniques. This open-science resource contains raw and processed data from Dreem3 EEG headbands, multi-sensor EmbracePlus smartwatches, and Withings Sleep mats, as well as parent questionnaires and daily sleep diaries. Data were collected successfully for >3600 days/nights from 102 adolescents (10-17 years old) with idiopathic autism and 98 of their non-autistic siblings. Whole-exome sequencing data is also available for all participants and their parents. To demonstrate the utility of this extensive dataset, we first present the breadth of synchronized high-resolution data available across multiple sensors/devices. We then demonstrate that objective sleep measures (e.g., total sleep time) from the three devices are more accurate and reliable than parent reported measures and reveal that sleep onset latency (SOL) was the only objectively defined sleep measure that differed significantly between autistic children and their siblings (of those examined in the study). Moreover, SOL was reliably associated with the severity of multiple behavioral difficulties in all children, regardless of autism diagnosis. These results highlight the importance of measuring sleep directly from participants using objective measures and demonstrate the extensive opportunities afforded by the SSP to further study autism and develop new digital phenotyping techniques for multiple research domains.Competing Interest StatementThe authors have declared no competing interest.Footnotes* https://base.sfari.org/dataset/DS0000089* https://github.com/Dinstein-Lab/SSP_manuscript

BackgroundThe recurrent similar to 600kb 16p11.2 BP4-BP5 deletion is among the most frequent known genetic aetiologies of autism spectrum disorder (ASD) and related neurodevelopmental disorders.ObjectiveTo define the medical, neuropsychological, and behavioural phenotypes in carriers of this deletion.MethodsWe collected clinical data on 285 deletion carriers and performed detailed evaluations on 72 carriers and 68 intrafamilial non-carrier controls.ResultsWhen compared to intrafamilial controls, full scale intelligence quotient (FSIQ) is two standard deviations lower in carriers, and there is no difference between carriers referred for neurodevelopmental disorders and carriers identified through cascade family testing. Verbal IQ (mean 74) is lower than non-verbal IQ (mean 83) and a majority of carriers require speech therapy. Over 80% of individuals exhibit psychiatric disorders including ASD, which is present in 15% of the paediatric carriers. Increase in head circumference (HC) during infancy is similar to the HC and brain growth patterns observed in idiopathic ASD. Obesity, a major comorbidity present in 50% of the carriers by the age of 7 years, does not correlate with FSIQ or any behavioural trait. Seizures are present in 24% of carriers and occur independently of other symptoms. Malformations are infrequently found, confirming only a few of the previously reported associations.ConclusionsThe 16p11.2 deletion impacts in a quantitative and independent manner FSIQ, behaviour and body mass index, possibly through direct influences on neural circuitry. Although non-specific, these features are clinically significant and reproducible. Lastly, this study demonstrates the necessity of studying large patient cohorts ascertained through multiple methods to characterise the clinical consequences of rare variants involved in common diseases.