Whole-genome sequencing was performed on DNA originating from a bone sample. Three replicates of libraries were prepared using ThruPLEX DNA-seq Kit (Takara) which were sequenced on a HiSeq X instrument (Illumina). A mean coverage of 30X was obtained when the sequencing reads were mapped to a...
Whole genome sequencing (WGS) may be advantageous to whole exome sequencing (WES) as it is unbiased and evaluates both non-coding and coding regions of the genome WGS has the potential to identify single nucleotide variants (SNVs), small insertion/deletions (indels), copy number variants (CNVs...
WGS from patient to clinical report. The journey of Whole Genome Sequencing (WGS) commences and concludes at the patient’s bedside. Upon the attending physician’s assessment, a WGS analysis is deemed potentially beneficial for offering crucial clinical insights, either through diagnosis or by prese...
Whole-genome sequencing approaches with pooled DNA have recently developed into a powerful tool to systematically identify selection signals at a relatively low cost16, particularly for non-model organisms. In livestock, a pioneering study that used the pooled genome sequencing17reported a number of ...
Although the sample size, sequencing depth and quality of a reference genome may affect the level of genetic diversity seen in animal populations39, the within-population genetic diversity estimates presented here (Table2) indicate that domestic reindeer typically exhibit higher genetic diversity than, ...
Microbial genome sequencing is now being routinely used in many clinical and public health laboratories. Understanding how to report complex genomic test results to stakeholders who may have varying familiarity with genomics—including clinicians, laboratorians, epidemiologists, and researchers—is critical ...
We present the draft genome sequence of extended-spectrum β-lactamase (ESBL)-producingKlebsiella pneumoniaeisolated from a stool sample collected from a patient admitted for a gastrointestinal procedure. The draft genome sequence consists of 86 contigs, including a combined 5,632,663 bases with 57%...
Exome sequencing is a targeted sequencing approach that is restricted to the protein-coding regions of genomes. The exome is estimated to encompass approximately 1% of the genome, yet contains approximately 85% of disease-causing mutations [1]. For genetic r...
Molecular sex determination was applied to the bone sample by comparing the number of alignments to the Y chromosome and the total number of alignments to the X and Y chromosomes in the libraries prepared with and without uracil-DNA glycosylase48. The mitochondrial genome was reconstructed from the...
genome using the ‘Picard’ pipeline, followed by QC using ‘Firehose’ tools developed at the Broad22(https://www.broadinstitute.org/cancer/cga/Firehose). The QC parameters tested include lane cross-check fingerprinting for sample identity, tumour normal cross-contamination measured using ContEst63...