Article

Short-Read Genome Sequencing at Population Scale: Diagnostic Insights From 2,317 Patients

2025-09-17

Abstract excerpt

<title>Abstract</title> <p> <bold>Introduction</bold> : As part of the Danish National Genome Centre (DNGC) initiative, the Central Denmark Region has implemented short-read whole genome sequencing (srWGS) as a first-tier diagnostic tool for suspected monogenetic disorders. Despite increasing adoption of genome sequencing, evidence from large-scale implementation across clinical specialties remains limited. Her...

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Literature Corpus work: b7a8da81-82bc-5d5a-86d3-61bf1d3df6cc
DOI: 10.21203/rs.3.rs-7432106/v1

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