Application of Long Read Whole Genome Sequencing to elucidate the molecular etiology of a patient with diagnostic odyssey
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Presenting Author - Hieu T. Nguyen, PhD; Co-Author - Leah Frater-Rubsam, PhD; Co-Author - April Hall; Co-Author - Vanessa Horner, PhD, FACMG; Co-Author - Stephen Meyn, MD, PhD;
Meta Tag
Bioinformatics
Chromosomal Abnormalities
Companion Diagnostics
Congenital Anomaly
Genome sequencing
Genotype-Phenotype Correlations
Identification of Disease Genes
Sequencing
Co-Author Leah Frater-Rubsam, PhD
Co-Author April Hall
Co-Author Vanessa Horner, PhD, FACMG
Co-Author Stephen Meyn, MD, PhD
Presenting Author Hieu T. Nguyen, PhD
Keywords
long-read whole genome sequencing
complex chromosomal rearrangement
molecular diagnosis
genetic conditions
developmental delay
speech and language delays
hypotonia
obesity
facial abnormalities
LRS technologies

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