Article

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

2021-10-12

Abstract excerpt

<h4>ABSTRACT</h4> <h4>PURPOSE</h4> To provide comprehensive diagnostic and candidate analyses in a pediatric rare disease cohort through the Genomic Answers for Kids (GA4K) program. <h4>METHODS</h4> Extensive analyses of 960 families with suspected genetic disorders including short-read exome (ES) and genome sequencing (srGS); PacBio HiFi long-read GS (HiFi-GS); variant calling for small-nucleotide (SNV), structur...

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Literature Corpus work: a87ec42d-f2fd-5b61-b37f-5ae15a5c4a36
DOI: 10.1101/2021.10.07.21264628

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