Resolving the Full Spectrum of Human Genome Variation using Linked-Reads
Patrick Marks, Sarah Garcia, Álvaro Martínez Barrio, Kamila Belhocine, Jorge Bernate, Rajiv Bharadwaj, Keith P. Bjornson, Claudia Catalanotti, Josh Delaney, Adrian N. Fehr, Ian T. Fiddes, Brendan D. Galvin, Haynes Heaton, Jill Herschleb, Christopher M. Hindson, , 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.
Genome Research · Apr 1, 2019Peer-reviewedGenomics