Chromosomal-level assembly of the Asian Seabass genome using long sequence reads and multi-layered scaffolding [PDF]
We report here the ~670 Mb genome assembly of the Asian seabass (Lates calcarifer), a tropical marine teleost. We used long-read sequencing augmented by transcriptomics, optical and genetic mapping along with shared synteny from closely related fish ...
A Bairoch +190 more
core +9 more sources
A Gene-Based Method for Cytogenetic Mapping of Repeat-Rich Mosquito Genomes
Long-read sequencing technologies have opened up new avenues of research on the mosquito genome biology, enabling scientists to better understand the remarkable abilities of vectors for transmitting pathogens.
Reem A. Masri +3 more
doaj +1 more source
Comparative genetics of Enterococcus faecalis intestinal tissue isolates before and after surgery in a rat model of colon anastomosis. [PDF]
We have recently demonstrated that collagenolytic Enterococcus faecalis plays a key and causative role in the pathogenesis of anastomotic leak, an uncommon but potentially lethal complication characterized by disruption of the intestinal wound following ...
Alverdy, John C +8 more
core +1 more source
Long-read technologies identify a hidden inverted duplication in a family with choroideremia
Summary: The lack of molecular diagnoses in rare genetic diseases can be explained by limitations of current standard genomic technologies. Upcoming long-read techniques have complementary strengths to overcome these limitations, with a particular ...
Zeinab Fadaie +15 more
doaj +1 more source
Optical genome mapping in an atypical Pelizaeus-Merzbacher prenatal challenge
Pathogenic genetic variants represent a challenge in prenatal counseling, especially when clinical presentation in familial carriers is atypical. We describe a prenatal case involving a microarray-detected duplication of PLP1 which causes X-linked ...
Mihael Rogac +7 more
doaj +1 more source
Pericentromeric heterochromatin is hierarchically organized and spatially contacts H3K9me2 islands in euchromatin. [PDF]
Membraneless pericentromeric heterochromatin (PCH) domains play vital roles in chromosome dynamics and genome stability. However, our current understanding of 3D genome organization does not include PCH domains because of technical challenges associated ...
Acevedo, David +7 more
core +3 more sources
Genome maps across 26 human populations reveal population-specific patterns of structural variation. [PDF]
Large structural variants (SVs) in the human genome are difficult to detect and study by conventional sequencing technologies. With long-range genome analysis platforms, such as optical mapping, one can identify large SVs (>2 kb) across the genome in ...
Cao, Han +25 more
core +2 more sources
Optical genome mapping reveals novel structural variations in an autism spectrum disorder cohort. [PDF]
Zhang Y +10 more
europepmc +2 more sources
SIMBA: a web tool for managing bacterial genome assembly generated by Ion PGM sequencing technology [PDF]
Background The evolution of Next-Generation Sequencing (NGS) has considerably reduced the cost per sequenced-base, allowing a significant rise of sequencing projects, mainly in prokaryotes. However, the range of available NGS platforms requires different
Aguiar, Edgar L. +13 more
core +3 more sources
Optical mapping approaches to molecular genomics
A variety of physical mapping methods exist for the analysis of nucleic acids or genomes, including hybridization, sequence tagged site mapping, restriction enzyme fingerprinting, radiation hybrid mapping and optical mapping. Single-molecule approaches offer numerous advantages, including very high resolution, small sample size requirements, and ...
D C, Schwartz, A, Samad
openaire +2 more sources

