SVhound: detection of regions that harbor yet undetected structural variation
BMC Bioinformatics, 2023 Background Recent population studies are ever growing in number of samples to investigate the diversity of a population or species. These studies reveal new polymorphism that lead to important insights into the mechanisms of evolution, but are also ...
Luis F. Paulin +5 more
doaj +1 more source
Sequencing of a central nervous system tumor demonstrates cancer transmission in an organ transplant
Life Science Alliance, 2021 This study uses DNA sequencing to trace a donor organ transplant–mediated cancer transmission and illustrates how precise molecular pathology profiles might reduce future risk for transplant recipients.
Marie-Claude Gingras +15 more
doaj +1 more source
Are we there yet? : reliably estimating the completeness of plant genome sequences [PDF]
, 2016 Genome sequencing is becoming cheaper and faster thanks to the introduction of next-generation sequencing techniques. Dozens of new plant genome sequences have been released in recent years, ranging from small to gigantic repeat-rich or polyploid genomes.
Ruttink, Tom +2 more
core +3 more sources
Discovery of large genomic inversions using long range information. [PDF]
, 2017 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
FixItFelix: improving genomic analysis by fixing reference errors
Genome Biology, 2023 The current version of the human reference genome, GRCh38, contains a number of errors including 1.2 Mbp of falsely duplicated and 8.04 Mbp of collapsed regions.
Sairam Behera +11 more
doaj +1 more source
An improved genome of the model marine alga Ostreococcus tauri unfolds by assessing Illumina de novo assemblies [PDF]
, 2014 Background: Cost effective next generation sequencing technologies now enable the production of genomic datasets for many novel planktonic eukaryotes, representing an understudied reservoir of genetic diversity. O.
Blanc-Mathieu, Romain +14 more
core +6 more sources
Exploring genome wide bisulfite sequencing for DNA methylation analysis in livestock: a technical assessment [PDF]
, 2014 peer-reviewedRecent advances made in “omics” technologies are contributing to a revolution in livestock selection and breeding practices. Epigenetic mechanisms, including DNA methylation are important determinants for the control of gene expression in ...
Couldrey, Christine, Doherty, Rachael
core +2 more sources
Sequencing technologies and genome sequencing [PDF]
Journal of Applied Genetics, 2011 The high-throughput - next generation sequencing (HT-NGS) technologies are currently the hottest topic in the field of human and animals genomics researches, which can produce over 100 times more data compared to the most sophisticated capillary sequencers based on the Sanger method.
Pareek, Chandra Shekhar +2 more
openaire +3 more sources
Sequencing the Major Mycosphaerella Pathogens of Wheat and Banana [PDF]
, 2009 Mycosphaerella is one of the largest genera of plant-pathogenic fungi with more than 1,000 named species, many of which are important pathogens causing leaf spotting diseases in a wide variety of crops including cereals, citrus, banana, eucalypts, soft ...
Kema, G.H.J.
core +2 more sources
GENESPACE tracks regions of interest and gene copy number variation across multiple genomes
eLife, 2022 The development of multiple chromosome-scale reference genome sequences in many taxonomic groups has yielded a high-resolution view of the patterns and processes of molecular evolution.
John T Lovell +8 more
doaj +1 more source