Massively Parallel Sequencing
Increasing phylogenetic resolution at low taxonomic levels using massively parallel sequencing of chloroplast genomes
... DNA sequencing is poised to bring the benefits of affordable genome-scale data collection to such studies at low taxonomic levels (genera, species, and ...populations). Massively parallel ...
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Genotypic tropism testing by massively parallel sequencing: qualitative and quantitative analysis
... There is room for improvements. First, as already dis- cussed above one has to decide if the goal is to recreate the results of Trofile-assay or rather to reliably predict coreceptor antagonist admissibility. In our ...
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Development of forensic genomics research toolkits by the use of Massively Parallel Sequencing
... Massively parallel sequencing (MPS) is on the advent of a broad scale application in forensic research and ...(STR) sequencing data are not well suited for high throughput analysis of such ...
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The rare and undiagnosed diseases diagnostic service – application of massively parallel sequencing in a state-wide clinical service
... Individuals seen in outpatient clinics at GSWA received a genetic consultation and clinical assessment (phenotyping) by the attending physician. This includes: ascertainment of history; physical examination, including ...
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Massively Parallel Sequencing (MPS) of Cell-Free Fetal DNA (cffDNA) for Trisomies 21, 18, and 13 in Twin Pregnancies
... Massively parallel sequencing (MPS) technology has become increasingly available and has been widely used to screen for trisomies 21, 18, and 13 in singleton ...
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SICTIN: Rapid footprinting of massively parallel sequencing data
... The advent of massively parallel sequencing technologies has opened a field for hypothesis-free investigation of e.g. protein-DNA interaction. In order to facilitate truly exploratory biological data ...
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State of the art de novoassembly of human genomes from massively parallel sequencing data
... of sequencing would generate data of relatively low ...Accurate sequencing significantly increases the number of error-free reads, greatly facilitating graph ...
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Annotation of pseudogenic gene segments by massively parallel sequencing of rearranged lymphocyte receptor loci
... same sequencing studies have suggested that many polymorphisms have been reported in error ...high-throughput sequencing of the variable region of the beta chain of the ...
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Frequency of coreceptor tropism in PBMC samples from HIV 1 recently infected blood donors by massively parallel sequencing: the REDS II study
... isolates in subject 10BR_023RJ. If standard population- based sequencing data had been used alone, we would have not been able to detect the ×4 variants in that subject as it presents in 3.2 % of the viral ...
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Massively parallel sequencing and analysis of the Necator americanus transcriptome
... (EMBL-EBI Parasite Genome Blast Server, www.ebi.ac.uk) to identify putative homologues in C. elegans, other nematodes, and organisms other than nematodes (e-value of #1e-05). WormBase Release WS200 (www.wormbase.org) was ...
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Identification of rare X-linked neuroligin variants by massively parallel sequencing in males with autism spectrum disorder
... Compared to children without neurodevelopmental disorders, children with ASD demonstrate olfactory and taste dysfunction [95,96]. Notably, in mice the NLGN3 gene is expressed in all neurons of the olfactory bulb [40]. It ...
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Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss
... capture sequencing of known deafness genes confirmed the presence of this mu- tation as well as of a newly detected heterozygous USH2A gene mutation ...Sanger sequencing to screen the proband’s sibling and ...
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Sequence artefacts in a prospective series of formalin-fixed tumours tested for mutations in hotspot regions by massively parallel sequencing
... of sequencing artefacts post-PCR ...high sequencing coverage with little or no stochastic enrichment of sequencing ...non-reproducible sequencing artefacts (C>T/ G>A ...
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Targeted massively parallel sequencing of angiosarcomas reveals frequent activation of the mitogen activated protein kinase pathway
... adapter ligation and barcoding and 24 samples sequenced in parallel on an Illumina MiSeq. Sequence reads were aligned to the human reference sequence (hg19) using BWA and post-processed using tools from GATK and ...
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Axial mitochondrial myopathy in a patient with rapidly progressive adult-onset scoliosis
... by massively parallel (“next generation”) sequencing was performed on the paraspinal muscle and blood according to previously pub- lished methods ...heteroplasmy. Massively parallel ...
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A protocol for the identification and validation of novel genetic causes of kidney disease
... of massively parallel sequencing (MPS) from ap- proximately 2005 [14] has arguably been the next greatest advance since the development of Sanger sequencing in the late 1970s [15, ...
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Next generation sequencing
... of massively parallel sequencing are likely to reshape several aspects of breast cancer ...by massively parallel sequencing of breast cancers may lead to a paradigm shift in the ...
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A prenatal case with discrepant findings between non-invasive prenatal testing and fetal genetic testings
... further massively parallel sequencing (MPS) of maternal blood, fetal and placental tissues, we found a confined placental mosaicism (CPM) with non-mosaic T18 fetus and multiclonal placenta with high ...
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Novel Methods in the Study of the Breast Cancer Genome: Towards a Better Understanding of the Disease of Breast Cancer
... by sequencing (ChIP-Seq) uses antibodies to pull down tar- get DNA to globallysurvey the DNA binding pattern of a protein of interest ...with massively parallel se- quencing for genome-wide mapping ...
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pVAC-Seq: A genome-guided in silico approach to identifying tumor neoantigens
... of massively parallel sequencing data that includes annotated non-synonymous somatic variants that have been ‘translated’ into mutant amino acid changes, as well as patient-specific HLA ...exome ...
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