Chromosome-scale, haplotype-resolved assembly of human genomes
Garg S, Fungtammasan A, Carroll A, Chou M, Schmitt A, Zhou X, Mac S, Peluso P, Hatas E, Ghurye J, Maguire J, Mahmoud M, Cheng H, Heller D, Zook J, Moemke T, Marschall T, Sedlazeck F, Aach J, Chin C, Church G, Li H. Chromosome-scale, haplotype-resolved assembly of human genomes. Nature Biotechnology 2020, 39: 309-312. PMID: 33288905, PMCID: PMC7954703, DOI: 10.1038/s41587-020-0711-0.Peer-Reviewed Original ResearchConceptsHaplotype-resolved assembliesHuman genomeStructural variantsAssembly of human genomesDiscovery of structural variantsChromosome-scale phasingComplex genetic variationKiller cell immunoglobulin-like receptorsChromosome-scaleDiploid assemblyHaplotype-resolvedContig lengthGenome assemblyHeterozygous sitesTransposon insertionHaplotype variationGenetic variationPedigree informationGenomePhase assemblyPrecision medicineHuman leukocyte antigenImmunoglobulin-like receptorsAssemblyImportant regions
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