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Article

Assessment of the variant prioritization strategy for genomic newborn screening in the Generation Study.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2025

Kaplanis Joanna, Deen Dasha, Sivakumar Prasanth, de Almeida Gomes Mafalda, Puzriakova Arina, Leong Ivone, Savage Kevin, Aldam Gabriel, Skelton James, Quinn Paul, Parrish Andrew, Baple Emma, To Meekai, Stone Katrina, Bick David, Pichini Amanda, Tuff-Lacey Alice, Scott Richard, Thomas Ellen, Kasperaviciute Dalia

Abstract excerpt

PURPOSE: Genomic sequencing offers the opportunity to screen for hundreds of rare genetic conditions. To minimize potential negative impact on families and clinical services, it is crucial to reduce false-positive results while prioritizing clinical utility. We present an automated variant prioritization approach in the Generation Study, a research study investigating genomic sequencing in 100,000 newborns in...

Read the complete abstract on PubMed

Topics

Humans
Infant, Newborn
Neonatal Screening
Genetic Testing

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Genomics

DNA Copy Number Variations

High-Throughput Nucleotide Sequencing

England

Genetic Variation

Source

Open in PubMed Open full text

Identifiers

PMID: 40684348
DOI: 10.1016/j.gim.2025.101532
PMCID: PMC12714140

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