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Next-Generation Sequencing Analysis of GBA1: The Challenge of Detecting Complex Recombinant Alleles

Elizabeth Geena Woo, Nahid Tayebi, Ellen Sidransky

2021Frontiers in Genetics34 citationsDOIOpen Access PDF

Abstract

OPINION article Front. Genet., 21 June 2021Sec. Human and Medical Genomics https://doi.org/10.3389/fgene.2021.684067

Topics & Concepts

DNA sequencingRecombinant DNAGenomicsAlleleGeneticsComputational biologyBiologyHuman genomePersonal genomicsGenomeGeneLysosomal Storage Disorders ResearchGlycosylation and Glycoproteins ResearchCarbohydrate Chemistry and Synthesis