Data-driven consideration of genetic disorders for global genomic newborn screening programs

Over 30 international studies are exploring newborn sequencing (NBSeq) to expand the range of genetic disorders included in newborn screening. Substantial variability in gene selection across programs exists, highlighting the need for a systematic approach to prioritize genes. We assembled a data se...

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Vydané v:	Genetics in medicine Ročník 27; číslo 7; s. 101443
Hlavní autori:	Minten, Thomas, Bick, Sarah, Adelson, Sophia, Gehlenborg, Nils, Amendola, Laura M, Boemer, François, Coffey, Alison J, Encina, Nicolas, Ferlini, Alessandra, Kirschner, Janbernd, Russell, Bianca E, Servais, Laurent, Sund, Kristen L, Taft, Ryan J, Tsipouras, Petros, Zouk, Hana, Bick, David, Green, Robert C, Gold, Nina B
Médium:	Journal Article
Jazyk:	English
Vydavateľské údaje:	United States 01.07.2025
Predmet:	Genetic Diseases, Inborn - diagnosis Genetic Diseases, Inborn - genetics Genetic Testing - methods Genomics - methods Humans Infant, Newborn Machine Learning Neonatal Screening - methods Newborn screening Gene selection Genomic sequencing Gene-disorder associations Machine learning
ISSN:	1530-0366, 1530-0366
On-line prístup:	Zistit podrobnosti o prístupe
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