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
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
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