Length-independent DNA packing into nanopore zero-mode waveguides for low-input DNA sequencing [PDF]
Compared with conventional methods, single-molecule real-time (SMRT) DNA sequencing exhibits longer read lengths than conventional methods, less GC bias, and the ability to read DNA base modifications.
Henley, Robert Y. +4 more
core +1 more source
InPhaDel: integrative shotgun and proximity-ligation sequencing to phase deletions with single nucleotide polymorphisms. [PDF]
Phasing of single nucleotide (SNV), and structural variations into chromosome-wide haplotypes in humans has been challenging, and required either trio sequencing or restricting phasing to population-based haplotypes.
Bafna, Vineet +4 more
core +2 more sources
Long-Read Sequencing Annotation of the Transcriptome in DNA-PK Inactivated Cells
The DNA-dependent protein kinase catalytic subunit (DNA-PKcs) with a Ku70/Ku80 heterodimer constitutes the intact DNA-PK kinase, which is an upstream component of the DNA repair machinery that signals the DNA damage, orchestrates the DNA repair, and ...
Liwei Song +10 more
doaj +1 more source
Haplotype-phased synthetic long reads from short-read sequencing
AbstractNext-generation DNA sequencing has revolutionized the study of biology. However, the short read lengths of the dominant instruments complicate assembly of complex genomes and haplotype phasing of mixtures of similar sequences. Here we demonstrate a method to reconstruct the sequences of individual nucleic acid molecules up to 11.6 kilobases in ...
Stapleton, James A +12 more
openaire +6 more sources
Premise We present approaches used to generate long‐read Nanopore sequencing reads for the Liliales and demonstrate how modifications to standard protocols directly impact read length and total output.
Gisel Y. De La Cerda +11 more
doaj +1 more source
Hybrid assembly with long and short reads improves discovery of gene family expansions [PDF]
BACKGROUND: Long-read and short-read sequencing technologies offer competing advantages for eukaryotic genome sequencing projects. Combinations of both may be appropriate for surveys of within-species genomic variation.
Denny, R. +18 more
core +1 more source
Discovery of large genomic inversions using long range information. [PDF]
BackgroundAlthough many algorithms are now available that aim to characterize different classes of structural variation, discovery of balanced rearrangements such as inversions remains an open problem.
Alkan, Can +8 more
core +3 more sources
Ultraaccurate genome sequencing and haplotyping of single human cells. [PDF]
Accurate detection of variants and long-range haplotypes in genomes of single human cells remains very challenging. Common approaches require extensive in vitro amplification of genomes of individual cells using DNA polymerases and high-throughput short ...
Bafna, Vineet +6 more
core +1 more source
NanoPack: visualizing and processing long read sequencing data [PDF]
AbstractSummary: Here we describe NanoPack, a set of tools developed for visualization and processing of long read sequencing data from Oxford Nanopore Technologies and Pacific Biosciences.Availability and Implementation: The NanoPack tools are written in Python3 and released under the GNU GPL3.0 Licence.
De Coster, Wouter +4 more
openaire +3 more sources
Identification of Structural Variation in Chimpanzees Using Optical Mapping and Nanopore Sequencing. [PDF]
Recent efforts to comprehensively characterize great ape genetic diversity using short-read sequencing and single-nucleotide variants have led to important discoveries related to selection within species, demographic history, and lineage-specific traits.
Andrés, Aida M +7 more
core +3 more sources

