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Mashup Score: 0
Indigenous communities need to be equal partners with scientists in ancient DNA (aDNA) research. A recent statement of “five globally applicable guidelines” for aDNA research elevates the concerns of scientists over those of communities. We posit alternative considerations that should guide aDNA research.
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Mashup Score: 3IMPROVE-DD: Integrating multiple phenotype resources optimizes variant evaluation in genetically determined developmental disorders - 1 year(s) ago
Diagnosing rare developmental disorders using genome-wide sequencing data requires review of multiple plausible candidate variants, often using ontologies of categorical clinical terms. We show that integrating multiple phenotype resources optimizes variant evaluation in developmental disorders (IMPROVE-DD) by incorporating additional phenotypic data commonly available to clinicians and recorded…
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Mashup Score: 1Inverted genomic regions between reference genome builds in humans impact imputation accuracy and decrease the power of association testing - 1 year(s) ago
Genotype imputation infers genetic variation that are not experimentally observed. We identified a common informatic error that leads to poor imputation in regions that are inverted across different versions of the reference genome. We provided a heuristics to identify affected variants so that they can be imputed optimally.
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Mashup Score: 0Biallelic pathogenic variants in the mitochondrial form of phosphoenolpyruvate carboxykinase cause peripheral neuropathy - 1 year(s) ago
We have identified biallelic pathogenic variants in PCK2 in three individuals with a neurogenetic condition that features abnormal gait and evidence of peripheral neuropathy. We provide supportive data from patient fibroblasts of mutation impact on PCK2 expression and activity, and from a Pck2 knockout mouse model that corroborates the peripheral neuropathy phenotype.
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Mashup Score: 0Low and differential polygenic score generalizability among African populations due largely to genetic diversity - 1 year(s) ago
Majara et al. show that polygenic scores generalize variably across diverse populations due to genetic differences between target and discovery cohorts. Multi-ancestry discovery GWAS typically improve prediction accuracy in underrepresented populations more than an increase in the European sample size, but not necessarily when sample sizes are imbalanced.
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Mashup Score: 1Genetic regulation of circular RNA expression in human aortic smooth muscle cells and vascular traits - 1 year(s) ago
This study employs a systems genetics approach to identify smooth muscle cell circular RNA transcripts and their relevance in cardiovascular traits across the genome. It identifies 14 blood pressure, one myocardial infarction, and three coronary artery disease loci, which are associated with a circular RNA transcript abundance but not messenger RNA transcript abundance.
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Mashup Score: 1Cultivating diversity as an ethos with an anti-racism approach in the scientific enterprise - 1 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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Mashup Score: 6HLA-A∗03:01 is associated with increased risk of fever, chills, and stronger side effects from Pfizer-BioNTech COVID-19 vaccination - 1 year(s) ago
COVID-19 vaccines are safe and highly effective, but some individuals experience unpleasant reactions to vaccination. As the majority of adults in the United States have received a COVID-19 vaccine this year, there is an unprecedented opportunity to study the genetics of reactions to vaccination via surveys of individuals who are already part of genetic research studies. Here, we have queried…
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Mashup Score: 0Genetic discovery and risk characterization in type 2 diabetes across diverse populations - 1 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: 4Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological disorder - 1 year(s) ago
We characterize the natural history of KIF1A-associated neurological disorder (KAND) in 117 individuals. We develop a disease severity score, which we apply to show severity is associated with variant location. We generated mutant proteins for a subset of variants, which we find all alter transport, and we identify three classes of protein dysfunction.
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Hand-picked highlight from @HGGAdvances: Community partnerships are fundamental to ethical ancient DNA research @GeneticsSociety @DNAlawyer https://t.co/XXDrv9LfFZ https://t.co/xZXA6DJFwn