Etiqueta: AmJHumGenet

The Gabriella Miller Kids First Data Resource Center produces harmonized genomic datasets for the discovery of underlying genetic variants associated with pediatric cancer and congenital anomalies. This paper highlights the successes, discusses the cha…

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…

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…

The Gabriella Miller Kids First Data Resource Center produces harmonized genomic datasets for the discovery of underlying genetic variants associated with pediatric cancer and congenital anomalies. This paper highlights the successes, discusses the cha…

This study presents analyses of phenotype distributions, phenotype/ancestry correlations, and genotype/phenotype associations for 27 anthropometric and cardiometabolic traits in a cohort drawn from diverse ethnolinguistic and subsistence groups across …

This study presents analyses of phenotype distributions, phenotype/ancestry correlations, and genotype/phenotype associations for 27 anthropometric and cardiometabolic traits in a cohort drawn from diverse ethnolinguistic and subsistence groups across …

To the Editor: We are writing regarding the article by Zaslavsky et al.,1 published on January 8, 2026, in The American Journal of Human Genetics titled “Low population penetrance of variants associated with inherited retinal degenerations.” The study …

To the Editor: We appreciate the interest of Drs. Quinodoz and Leroy in our publication. In general, we agree that further studies are required to determine how generalizable the reported findings are. That said, we believe the data reported provide co…

Whereas cis-acting regulatory variants are located near their target genes and affect regions such as promoters and enhancers, trans-acting regulatory variants can be located anywhere in the genome and affect expression through a variety of indirect me…

We measure the impact of every possible amino acid change in the autoimmune regulator protein AIRE via fluorescent reporter assay, providing a variant effect map and proactive evidence that enables more accurate pathogenicity classification of missense…