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Mashup Score: 0
The analysis of whole genome sequencing (WGS) data has great potential to advance our understanding of the genetic architecture of common traits. By applying a set of systematic approaches to WGS data for non-syndromic cleft lip with/without cleft palate, we here generate novel insights into its etiology.
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Mashup Score: 0Inclusion of variants discovered from diverse populations improves polygenic risk score transferability - 1 year(s) ago
One can combine trait-associated variants into a more strongly predictive polygenic risk score (PRS). However, PRSs developed in European ancestry populations may poorly predict traits in other populations. We find that the inclusion of variants from African ancestry populations may result in more accurate PRS prediction across populations.
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Mashup Score: 1Genetics for all: Tri-directional research engagement as an equitable framework for international partnerships - 2 year(s) ago
In this commentary, we propose a framework of 3rd party investigator empowerment to build research capacity and foster equitable international—a tri-directional engagement model. We acknowledge challenges in establishing this model while arguing that the benefits are essential to the vision of diversity, equity, and excellence in genetics research.
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Mashup Score: 0Genome-wide survey of parent-of-origin-specific associations across clinical traits derived from electronic health records - 2 year(s) ago
Genetic variants can have differential phenotypic effects based on parent-of-origin (PoO) due to imprinting. PoO of variants can be inferred by comparing parental and offspring genetic data. Genome-wide PoO-aware association testing reveals PoO effects across numerous clinical traits. PoO statistical models can identify novel associations undetected by standard additive models.
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Mashup Score: 3The past, present, and future for constitutional ring chromosomes: A report of the international consortium for human ring chromosomes - 2 year(s) ago
Significant advances in the genetic diagnosis and clinical management for constitutional ring chromosomes have been achieved in the past 60 years. Li et al. performed a systematic review on the progress of diagnostic technologies for analyzing ring chromosomes and the current understanding of clinical and cytogenomic heterogeneity of ring chromosomes. An international consortium for human ring…
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Mashup Score: 0Identifying and correcting for misspecifications in GWAS summary statistics and polygenic scores - 2 year(s) ago
This work studies the impact of misspecifications in summary statistics from genome-wide association studies. It provides an overview of such misspecifications, how they can arise, and what negative consequences they can have on follow-up analyses. It also investigates possible corrections, with the main goal of improving polygenic scores.
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Mashup Score: 0Omics-informed CNV calls reduce false-positive rates and improve power for CNV-trait associations - 2 year(s) ago
Lepamets et al. presented a customizable framework to estimate copy-number variation quality based on independent omics data layers, as well as a prebuilt omics-informed quality score (OQS) model for widely used PennCNV software. In association analyses, OQS outperformed the previously published CNV filtering approaches or quality scores.
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Mashup Score: 0Personalized structural biology reveals the molecular mechanisms underlying heterogeneous epileptic phenotypes caused by de novo KCNC2 variants - 2 year(s) ago
We apply an integrated “personalized structural biology” approach to a de novo missense variant in KCNC2 identified in an individual in the Undiagnosed Diseases Network. Our results demonstrate the strength of combining genomic, structural, and biophysical analyses to generate and validate hypotheses about the molecular effects of rare missense variants.
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Mashup Score: 6Genetic discovery and risk characterization in type 2 diabetes across diverse populations - 2 year(s) ago
We report a multiethnic genome-wide association study of type 2 diabetes and evaluate the performance of a genetic risk score (GRS) in five ethnic groups. Drawing upon large-scale resources, our study explores how a multiethnic derived GRS predicts T2D risk in European American, African American, Hispanic, Native Hawaiian, and Asian subgroups.
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Mashup Score: 3Cultivating diversity as an ethos with an anti-racism approach in the scientific enterprise - 2 year(s) ago
The cultivation and adoption of diversity in the workforce as an ethos requires shifting our focus to being intentional about an institution’s character, culture, and climate. One way for this ethos to be sustained is by facilitating an intentional anti-racism approach within genomic science.
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New research suggests that variation in Musculin binding sites contributes to non-syndromic cleft lip with/without cleft palate etiology. Read more in @HGGAdvances: https://t.co/axPFdM99zL https://t.co/EtarxPGyBR