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Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes

16 Mar 2022

Abstract excerpt

PURPOSE: This study aimed to provide comprehensive diagnostic and candidate analyses in a pediatric rare disease cohort through the Genomic Answers for Kids program. METHODS: Extensive analyses of 960 families with suspected genetic disorders included short-read exome sequencing and short-read genome sequencing (srGS); PacBio HiFi long-read genome sequencing (HiFi-GS); variant calling for single nucleotide...

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PMID: 35305867
DOI: 10.1016/j.gim.2022.02.007

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