Etiqueta: AmJHumGenet
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Interaction of identity and beliefs with genetic literacy
To understand how people relate to genetics, we must measure more than knowledge. Here, we show from over 4,000 participants that multiple personal beliefs have significant effects on genetic literacy, particularly confidence in one’s own genetic knowl…
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Low population penetrance of variants associated with inherited retinal degenerations
We used two large biobanks with linked genomic and clinical data to quantify the population-level penetrance of variants thought to cause inherited retinal degenerations (IRDs) in a Mendelian fashion. The population-level penetrance of IRD-associated g…
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Racial and socioeconomic disparities in genetic evaluation and testing in the adult patient population
This study of over 14,000 adults in two major health systems reveals striking racial and socioeconomic disparities in access to genetics evaluation and testing. Black individuals and those from disadvantaged neighborhoods were less likely to be evaluat…
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MIRAGE: A Bayesian statistical method for gene-level rare-variant analysis incorporating functional annotations
In this paper, we proposed a computational Bayesian method—MIRAGE—to perform rare-genetic-variant analysis in population-matched case-control studies or transmitted variants from families. Several plausible autism-risk genes are identified by applying …
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Genetic control of non-coding RNAs in the human brain and their implications for complex traits
Genetic control of non-coding RNAs (ncRNAs) in the brain is poorly understood. We cataloged thousands of ncRNAs and their genetic regulators (eQTLs) from 2,865 brain samples. These ncRNA-eQTLs are enriched for heritability of brain-related traits and e…
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Plasma DNA Profile Associated with DNASE1L3 Gene Mutations: Clinical Observations, Relationships to Nuclease Substrate Preference, and In Vivo Correction
(The American Journal of Human Genetics 107, 882–894; November 5, 2020)
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Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia
Fasham and colleagues report a palindrome-mediated genomic disorder causing a recognizable, severe phenotype marked by early-onset progressive ataxia, cognitive decline, and cerebellar atrophy. Microarray and short/long-read genome sequencing uncovered…
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Functional classification of platelet gene variants using CRISPR HDR in CD34+ cell-derived megakaryocytes
Using CRISPR-edited CD34+ cells differentiated into megakaryocytes, CRIMSON HD models Glanzmann thrombasthenia phenotypes, providing a robust, lineage-relevant framework for functional testing and reclassification of clinically ambiguous variants in in…
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This month in The Journal
Through paleogenomics, the study of ancient DNA (aDNA), scientists have been able to construct chronologies of human evolution, detailing interactions between Homo sapiens, other species, and past environments. Paleogenomics differs from modern genomic…
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Improving polygenic risk prediction performance by integrating electronic health records through phenotype embedding
EEPRS integrates electronic health record-derived phenotype embeddings with GWAS summary statistics to improve polygenic risk prediction. Using embedding methods such as Word2Vec and GPT, EEPRS enhances both single- and multi-trait PRS performance and …