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Genome-wide analysis aids in diagnosing rare pediatric diseases

1. In this cohort study, a combination of exome sequencing, microarray analysis, and phenotypic data improved the detection of rare pediatric diseases. 2. Several factors were identified that impact the probability of successful diagnosis, including the recruitment of a parent-offspring trio. Evidence Rating Level: 2 (Good) Study Rundown: Genomic sequencing has enabled significant progress in
Minute Medicine Inc Rating Level Deciphering Developmental Disorders Developmental Disorders Gene Chronic Disease Deciphering Developmental Disorders Study

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MGI and South Australian Genomics Centre Introduce DNBSEQ-T7

Brisbane, Australia 27thĀ April 2023 -Ā MGIĀ andĀ Ā South Australian Genomics CentreĀ (SAGC)Ā are proud to announce their joint efforts to advanceĀ genomics research in Australia by introducing the country's first commercial ultra-high throughput sequencerĀ DNBSEQ-T7*, through MGI's local distributorĀ Decode Science.
South Australia Bicheng Yang David Lynn Sen Wang Australian Genomics Centre Centre Manager

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