Categoría: The American Journal of Human Genetics
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Meta-analysis across six global biobanks identifies recessive coding associations with complex traits and diseases
We meta-analyze rare bi-allelic coding variation in approximately 1 million individuals across six biobanks, identifying 17 recessive gene-trait associations, including HBB with heart failure and LECT2 with reduced height. Incorporating compound-hetero…
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Meta-analysis across six global biobanks identifies recessive coding associations with complex traits and diseases
We meta-analyze rare bi-allelic coding variation in approximately 1 million individuals across six biobanks, identifying 17 recessive gene-trait associations, including HBB with heart failure and LECT2 with reduced height. Incorporating compound-hetero…
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Multi-ancestry transcriptome-wide association study reveals shared and population-specific genetic effects in Alzheimer disease
Sun et al. conduct a multi-population transcriptome-wide association study (TWAS) of Alzheimer disease using African American, non-Hispanic White, and Hispanic participants. Integrating multi-ancestry eQTL fine-mapping with TWAS prioritizes nine diseas…
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Multi-ancestry transcriptome-wide association study reveals shared and population-specific genetic effects in Alzheimer disease
Sun et al. conduct a multi-population transcriptome-wide association study (TWAS) of Alzheimer disease using African American, non-Hispanic White, and Hispanic participants. Integrating multi-ancestry eQTL fine-mapping with TWAS prioritizes nine diseas…
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Navigating data sharing in research
Sharing the data of research participants offers long-term scientific benefits but requires balancing protections against risks of individual- and group-level harms from genomic analyses. We examine challenges experienced and strategies implemented by …
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Navigating data sharing in research
Sharing the data of research participants offers long-term scientific benefits but requires balancing protections against risks of individual- and group-level harms from genomic analyses. We examine challenges experienced and strategies implemented by …
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Sensitivity of HiFi long-read genome sequencing for difficult-to-detect pathogenic variants when applied to real-world clinical laboratory samples
We applied HiFi long-read sequencing to 191 real-world clinical samples, which included buccal and low-molecular-weight DNA, and were enriched for difficult-to-detect variants. Overall, 99.6% (479/481) of variants were automatically detected with HiFi,…
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Sensitivity of HiFi long-read genome sequencing for difficult-to-detect pathogenic variants when applied to real-world clinical laboratory samples
We applied HiFi long-read sequencing to 191 real-world clinical samples, which included buccal and low-molecular-weight DNA, and were enriched for difficult-to-detect variants. Overall, 99.6% (479/481) of variants were automatically detected with HiFi,…
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Sensitivity of HiFi long-read genome sequencing for difficult-to-detect pathogenic variants when applied to real-world clinical laboratory samples
We applied HiFi long-read sequencing to 191 real-world clinical samples, which included buccal and low-molecular-weight DNA, and were enriched for difficult-to-detect variants. Overall, 99.6% (479/481) of variants were automatically detected with HiFi,…
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Benchmarking genetic birth prevalence estimates against newborn screening data
Genetics-first prediction of disease prevalence based on pathogenic variant frequencies lacks systematic validation. We benchmarked genetic models for 28 recessive disorders against newborn screening data from ∼23 million infants. Census-adjusted ances…