Categoría: The American Journal of Human Genetics
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The impact of sex on the immune system explored at the single-cell level
Yazar et al. characterized sex-based immune differences at single-cell resolution using sex-differential expression (differentially expressed genes [DEGs]) and sex-stratified expression quantitative loci (eQTLs). They identified sex-biased genes and pa…
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This month in The Journal
Population cohorts have enabled the discovery of genetic variants associated with a multitude of human phenotypes. While the focus is usually on SNPs, other types of variants have been shown to be impactful, including tandem repeats (TRs). Typically, i…
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The impact of sex on the immune system explored at the single-cell level
Yazar et al. characterized sex-based immune differences at single-cell resolution using sex-differential expression (differentially expressed genes [DEGs]) and sex-stratified expression quantitative loci (eQTLs). They identified sex-biased genes and pa…
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This month in The Journal
Population cohorts have enabled the discovery of genetic variants associated with a multitude of human phenotypes. While the focus is usually on SNPs, other types of variants have been shown to be impactful, including tandem repeats (TRs). Typically, i…
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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…
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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…
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Defining a tandem repeat catalog and variation clusters for genome-wide analyses and population databases
We share new resources and approaches for genome-wide analysis of tandem repeat (TR) variation. These include a method for characterizing variation clusters around TRs, a new catalog of 4.86 million TR loci, and the TRExplorer web portal, which provide…
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Defining a tandem repeat catalog and variation clusters for genome-wide analyses and population databases
We share new resources and approaches for genome-wide analysis of tandem repeat (TR) variation. These include a method for characterizing variation clusters around TRs, a new catalog of 4.86 million TR loci, and the TRExplorer web portal, which provide…