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Improved Characterization of Complex β-Globin Gene Cluster Structural Variants Using Long-Read Sequencing

Aruna Rangan, Molly S. Hein, Garrett Jenkinson, Tejaswi Koganti, Ross A. Aleff, Christopher A. Hilker, Joseph H. Blommel, Tavanna R. Porter, Kenneth C. Swanson, Patrick A. Lundquist, Phuong L. Nguyen, Min Shi, Rong He, David S. Viswanatha, Jin Jen, Eric W. Klee, Benjamin R. Kipp, James D. Hoyer, Eric D. Wieben, Jennifer L. Oliveira

2021Journal of Molecular Diagnostics12 citationsDOIOpen Access PDF

Topics & Concepts

IndelGeneticsBreakpointBiologyLocus (genetics)GeneGene duplicationComputational biologyINDEL MutationAlleleDNA sequencingCopy-number variationGenotypeChromosomeSingle-nucleotide polymorphismGenomeHemoglobinopathies and Related DisordersGenomics and Rare DiseasesIron Metabolism and Disorders
Improved Characterization of Complex β-Globin Gene Cluster Structural Variants Using Long-Read Sequencing | Litcius