using next-generation sequencing (NGS) technologies to focus on the coding portions of the genome, in which over 95% of disease-causing variants have been estimated to be located [52]. From both a clinical and research standpoint, the advantage of ES lies in the ability to interrogate almost...
or analyzed the origin of the specialized body structure of flatfishes by sequencing the genomes of 11 flatfish species representing 9 of the 14 Pleuronectiformes families [1]. In this context, the sequencing and annotation of the Black flounder genome would expand the knowledge of this species...
Genome sequencing, assembly, and annotation We first utilized high-throughput chromosome conformation capture (Hi-C) technology to improve the genome ofS. alba. This improvement builds upon our prior study utilizing PacBio Single-Molecule Real-Time (SMRT) sequencing and Illumina short reads sequencing5...
The promise, the pitfalls, and the policy implications of whole genome sequencingAthey, B
The translation of genome sequencing into routine health care has been slow, partly because of concerns about affordability. The aspirational cost of sequencing a genome is $1000, but there is little evidence to support this estimate. We estimate the cos
(RT-PCR), reverse transcription loop-mediated isothermal amplification (RT-LAMP), real-time RT-LAMP, recombinase polymerase amplification (RPA), high-throughput sequencing of the whole genome, and clustered regularly interspersed short palindromic repeats/CRISPR associated (CRISPR/Cas)-based approach ...
(2.7 Gb). Although SNP markers called from reduced genome representation libraries (Gupta et al.2015; Zhao et al.2016; Han et al.2018) or from transcriptome sequencing (Chopra et al.2015) have been used previously in groundnut, they tend to result in homoeologous SNP calls (Zhao et al....
One obstacle to the sequencing and annotation of many shark genomes lies in their overall large size. Among vertebrates, shark genomes are exceeded in size only by those of lungfishes (Dipnoi) and salamanders (Urodela)6. There are at least 15 known species of sharks with “C-values” (haplo...
Thus, most missense variants remain as variants of uncertain significance (VUS), limiting the utility of exome sequencing in clinical diagnosis2,10. VEP is even more challenging for coding variants affecting multiple residues such as in-frame indels. Experimental approaches for VEP such as deep ...
Sequencing, assembly and annotation of the noble rhubarb genome We generated 116.35 Gb PacBio long reads (78× coverage) and 155.4 Gb (105× coverage) cleaned Illumina short reads for noble rhubarb (Supplementary Data2). Long reads were used for de novo assembly, which was corrected an...