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资源简介：
Sequencing for Inborn Errors of Metabolism in newborns.
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创建时间：
2022-05-10
相关数据集
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.
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Newborn screening program for hemoglobinopathies in Rio de Janeiro, Brazil
Newborn screening program for hemoglobinopathies in Rio de Janeiro, Brazil
Global Health Data Exchange ()50
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
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Machine-Assisted Mixed Sample Analysis for Scalable Disease Screening
The uploaded dataset consists of raw FASTQ files generated within the study "Machine-Assisted Mixed Sample Analysis for Scalable Disease Screening." Sequencing was performed using the Illumina MiSeq p
DataCite Commons2026-05-15 更新50
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
