Etiqueta: AmJHumGenet
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Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditions
Cheng et al. introduce IsoRanker, a long-read transcriptome sequencing-based framework that prioritizes functionally relevant variants by detecting genes and isoforms with outlier expression, allelic imbalance, and/or nonsense-mediated decay (NMD). App…
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Distinct mutational landscapes for germline and somatic cancer variants in forty tumor suppressor genes
Analysis of germline and somatic cancer variants across 40 tumor suppressor genes (TSGs) revealed
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RNA splicing evidence enables robust classification of BRCA1 exon 18 variants: Results from the ENIGMA consortium
Using RNA and mESC functional analyses of 166 BRCA1 exon 18 variants, this ENIGMA study defines evidence-based thresholds for interpreting variants that induce skipping of this in-frame exon. The findings demonstrate that exon 18 skipping is poorly tol…
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Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditions
Cheng et al. introduce IsoRanker, a long-read transcriptome sequencing-based framework that prioritizes functionally relevant variants by detecting genes and isoforms with outlier expression, allelic imbalance, and/or nonsense-mediated decay (NMD). App…
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Shared genetic basis and structure of syndromic and normal facial variation
The facial shape effects of rare, Mendelian diseases tend to fall at extremes of axes of multivariate variation that characterize the background population. Unaffected relatives tend to show phenotypic features associated with that syndrome. These resu…
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Shared genetic basis and structure of syndromic and normal facial variation
The facial shape effects of rare, Mendelian diseases tend to fall at extremes of axes of multivariate variation that characterize the background population. Unaffected relatives tend to show phenotypic features associated with that syndrome. These resu…
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Overlapping Xp21.2 duplications define an X-linked hypotrichosis simplex and implicate TAB3 dosage sensitivity
(The American Journal of Human Genetics 113, 1719–1735; August 6, 2026)
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Overlapping Xp21.2 duplications define an X-linked hypotrichosis simplex and implicate TAB3 dosage sensitivity
(The American Journal of Human Genetics 113, 1719–1735; August 6, 2026)
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Shared inheritance reveals landscape of somatic and germline cancer risk in TP53
MacGregor et al. distinguish germline from somatic TP53 variants in 469,391 individuals using shared haplotype segments. Classic Li-Fraumeni alleles detected in healthy blood appear to be mostly somatic clonal expansions conferring largely hematologica…
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Examining gaps in institutional policies for clinical genomic data sharing: A cross-jurisdictional study
Clinical genomic data are increasingly shared for patient care, yet the rules governing sharing are often unclear. Analyzing policies from 33 institutions across 17 countries, Ju et al. find wide variation in how sharing without explicit patient consen…