Article

Inference of elevated mutation rates and variant effects using 700k exomes

2026-06-10

Abstract excerpt

Genomic sequencing is now widely accessible for genetic diagnostics and is emerging as a component of newborn screening. This technological development generates the need to characterize incoming mutations, create comprehensive datasets of genes causing rare Mendelian disorders, and identify pathogenic variants. Large-scale exome sequencing datasets such as Genome Aggregation Database (gnomAD) have been assembled...

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Literature Corpus work: 4289a281-9064-5410-8267-38735dd59106
DOI: 10.64898/2026.06.09.730991

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