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
Topics & Concepts
IndelGeneticsBreakpointBiologyLocus (genetics)GeneGene duplicationComputational biologyINDEL MutationAlleleDNA sequencingCopy-number variationGenotypeChromosomeSingle-nucleotide polymorphismGenomeHemoglobinopathies and Related DisordersGenomics and Rare DiseasesIron Metabolism and Disorders