GenomicsGenome ResearchPeer-reviewed
Resolving the Full Spectrum of Human Genome Variation using Linked-Reads
Patrick Marks, Sarah Garcia, Álvaro Martínez Barrio…·Deanna M. Church
This paper introduces Linked-Reads as a method to comprehensively analyze genome variation, showing it can detect both small and large variants and reconstruct haplotypes more effectively than short-read sequencing.
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