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Feasibility study of using NGS for SMA newborn screening
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2022-11-22
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Additional file 1 of The effectiveness of expanded carrier screening based on next-generation sequencing for severe monogenic genetic diseases
Additional file 1. Diseases and genes included in the carrier screening.
DataCite Commons2024-08-14 更新100
Integrating newborn genetic screening with traditional screening to improve newborn screening
Traditional newborn screening (tNBS) for inborn errors of metabolism (IEMs) and deafness has limitations, including the detection of few genetic disorders and variants, high false-positive rates, and
Figshare2025-11-07 更新30
Table_1_Targeted next-generation sequencing for pulmonary infection diagnosis in patients unsuitable for bronchoalveolar lavage.xlsx
BackgroundTargeted next-generation sequencing (tNGS) has emerged as a rapid diagnostic technology for identifying a wide spectrum of pathogens responsible for pulmonary infections. MethodsSputum sampl
NIAID Data Ecosystem20
732 preconception/early-pregnancy participants (233 couples and 266 individual females) underwent ECS panel testing
A total of 366 carriers of target diseases were identified, yielding a carrier rate of 50.00% (366/732). A cumulative total of 508 pathogenic/likely pathogenic (P/LP) variants were detected, with an a
DataCite Commons2025-08-11 更新50
Additional file 2 of Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates
Additional file 2: Table S2.
Figshare2022-02-21 更新20
