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2017 ; 27
(5
): 747-756
Nephropedia Template TP
Kamath GM
; Shomorony I
; Xia F
; Courtade TA
; Tse DN
Genome Res
2017[May]; 27
(5
): 747-756
PMID28320918
show ga
Long-read sequencing technologies have the potential to produce gold-standard de
novo genome assemblies, but fully exploiting error-prone reads to resolve repeats
remains a challenge. Aggressive approaches to repeat resolution often produce
misassemblies, and conservative approaches lead to unnecessary fragmentation. We
present HINGE, an assembler that seeks to achieve optimal repeat resolution by
distinguishing repeats that can be resolved given the data from those that
cannot. This is accomplished by adding "hinges" to reads for constructing an
overlap graph where only unresolvable repeats are merged. As a result, HINGE
combines the error resilience of overlap-based assemblers with repeat-resolution
capabilities of de Bruijn graph assemblers. HINGE was evaluated on the long-read
bacterial data sets from the NCTC project. HINGE produces more finished
assemblies than Miniasm and the manual pipeline of NCTC based on the HGAP
assembler and Circlator. HINGE also allows us to identify 40 data sets where
unresolvable repeats prevent the reliable construction of a unique finished
assembly. In these cases, HINGE outputs a visually interpretable assembly graph
that encodes all possible finished assemblies consistent with the reads, while
other approaches such as the NCTC pipeline and FALCON either fragment the
assembly or resolve the ambiguity arbitrarily.