Abstract:
:Next generation sequencing has disrupted genetic testing, allowing far more scope in the tests applied. The appropriate sections of the genome to be tested can now be readily selected, from single mutations to whole-genome sequencing. One product offering within this spectrum are focused exomes, targeting ~5,000 genes know to be implicated in human disease. These are designed to offer a flexible platform offering high diagnostic yield with a reduction in sequencing requirement compared to whole exome sequencing. Here, we have undertaken sequencing of control DNA samples and compare two kits, the Illumina TruSight One and the Agilent SureSelect Focused Exome. Characteristics of the kits are comprehensively evaluated. Despite the larger design region of the Agilent kit, we find that the Illumina kit performs better in terms of gene coverage, as well as coverage of clinically relevant loci. We provide exhaustive coverage statistics for each kit to aid the assessment of their suitability and provide read data for control DNA samples to allow for bioinformatic benchmarking by users developing pipelines for these data.
journal_name
Sci Repjournal_title
Scientific reportsauthors
Pengelly RJ,Ward D,Hunt D,Mattocks C,Ennis Sdoi
10.1038/s41598-020-60215-ysubject
Has Abstractpub_date
2020-02-24 00:00:00pages
3235issue
1issn
2045-2322pii
10.1038/s41598-020-60215-yjournal_volume
10pub_type
杂志文章abstract::Enoxacin and its bone-seeking bisphosphonate derivative, bis-enoxacin, have recently captured attention as potential therapeutic agents for the treatment of cancer and bone disease. No differences in growth or survival of 4T1 murine breast cancer cells were detected at a concentration of 50 µM of enoxacin or bis-enoxa...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-018-34698-9
更新日期:2018-11-01 00:00:00
abstract::Outer membrane vesicles (OMVs) produced by Gram-negative bacteria have roles in cell-to-cell signaling, biofilm formation, and stress responses. Here, the effects of abiotic stressors on OMV contents and composition from biofilm cells of the plant health-promoting bacterium Pseudomonas chlororaphis O6 (PcO6) are exami...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-020-78357-4
更新日期:2020-12-04 00:00:00
abstract::The growing prevalence of resistance to antibiotics motivates the search for new antibacterial agents. Antimicrobial peptides are a diverse class of well-studied membrane-active peptides which function as part of the innate host defence system, and form a promising avenue in antibiotic drug research. Some antimicrobia...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-020-67701-3
更新日期:2020-07-02 00:00:00
abstract::In quenched disordered out-of-equilibrium many-body colloidal systems, there are important distinctions between the glass transition, which is related to the onset of nonergodicity and loss of low-frequency relaxations caused by crowding, and the jamming transition, which is related to the dramatic increase in elastic...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-017-13584-w
更新日期:2017-11-08 00:00:00
abstract::Alp14 is a TOG-family microtubule polymerase from S. pombe that tracks plus ends and accelerates their growth. To interrogate its mechanism, we reconstituted dynamically unstable single isoform S. pombe microtubules with full length Alp14/TOG and Alp7, the TACC-family binding partner of Alp14. We find that Alp14 can d...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/srep20653
更新日期:2016-02-11 00:00:00
abstract::Passive immunotherapy with monoclonal antibodies (mAbs) is an efficacious treatment for Ebola virus (EBOV) infections in animal models and humans. Understanding what constitutes a protective response is critical for the development of novel therapeutic strategies. We generated an EBOV-glycoprotein-pseudotyped Human im...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/srep45552
更新日期:2017-03-30 00:00:00
abstract::Ubiquitylation is a protein modification implicated in several cellular processes. This process is reversible by the action of deubiquinating enzymes (DUBs). USP45 is a ubiquitin specific protease about which little is known, aside from roles in DNA damage repair and differentiation of the vertebrate retina. Here, by ...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-018-32685-8
更新日期:2018-09-26 00:00:00
abstract::The performances of two identical biofilters, filled with a new composite packing material (named CM-5) embedded with functional microorganisms or sterilized CM-5 without microorganisms, were investigated for H2S treatment. Running parameters in terms of microbial counts, pressure drops, and inlet and outlet H2S conce...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/srep42241
更新日期:2017-02-13 00:00:00
abstract::Proton therapy as a promising candidate in cancer treatment has attracted much attentions and many studies have been performed to investigate the new methods to enhance its radiation effectiveness. In this regard, two research groups have suggested that using boron isotopes will lead to a radiation effectiveness enhan...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-020-62268-5
更新日期:2020-03-25 00:00:00
abstract::Silver nanobelts (AgNBs) have attracted a great interest due to their excellent electrical conductivity and mechanical strength, leading a facile synthesis of these AgNBs in great demand. In here, we are reporting a simple, aqueous phase, size tunable synthesis of smooth surfaced 1D-silver nanobelts using a Polyanilin...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/srep44796
更新日期:2017-03-20 00:00:00
abstract::The life-like fidelity of organisms captured in amber is unique among all kinds of fossilization and represents an invaluable source for different fields of palaeontological and biological research. One of the most challenging aspects in amber research is the study of traits related to behaviour. Here, indirect eviden...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/srep34352
更新日期:2016-10-04 00:00:00
abstract::The F1F0-ATP synthase, an enzyme complex, is mainly located on the mitochondrial inner membrane or sometimes cytomembrane to generate or hydrolyze ATP, play a role in cell proliferation. This study focused on the role of F1F0-ATP synthase in keratinocyte differentiation, and its relationship with intracellular and ext...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/srep42672
更新日期:2017-02-17 00:00:00
abstract::Biomimetic scales provide a convenient template to tailor the bending stiffness of the underlying slender substrate due to their mutual sliding after engagement. Scale stiffness can therefore directly impact the substrate behavior, opening a potential avenue for substrate stiffness tunability. Here, we have developed ...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-020-74147-0
更新日期:2020-10-13 00:00:00
abstract::Only a few previous studies have investigated paraspinal musculature (i.e., multifidus (MF), psoas major (PSM), erector spinae (ES)) in longitudinal, population-based settings. This study aimed to evaluate changes in the cross-sectional area (CSA) of the paraspinal muscles between the ages of 20 and 30 years. The stud...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-019-56186-4
更新日期:2019-12-20 00:00:00
abstract::We analytically and numerically investigate magneto-plasmons in metal films surrounded by a ferromagnetic dielectric. In such waveguide using a metal film with a thickness exceeding the Skin depth, an external magnetic field in the transverse direction can induce a significant spatial asymmetry of mode distribution. S...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-018-28567-8
更新日期:2018-07-12 00:00:00
abstract::To identify a vegetation configuration pattern with a high-efficiency purification ability for total nitrogen (TN), available nitrogen (AN), total phosphorous (TP), available phosphorous (AP), and chemical oxygen demand (COD) based on comprehensive assessment results, a water discharge experiment was performed in the ...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-018-38097-y
更新日期:2019-02-20 00:00:00
abstract::This report describes development of spherical equivalent refraction (SER) and axial length (AL) in two population-based cohorts of white, European children. Predictive factors for myopic growth were explored. Participants were aged 6-7- (n = 390) and 12-13-years (n = 657) at baseline. SER and AL were assessed at base...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-020-72240-y
更新日期:2020-09-16 00:00:00
abstract::c-FLIP (cellular FLICE-inhibitory protein) is the pivotal regulator of TRAIL resistance in cancer cells, It is a short-lived protein degraded through the ubiquitin/proteasome pathway. The discovery of factors and mechanisms regulating its protein stability is important for the comprehension of TRAIL resistance by tumo...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/srep22999
更新日期:2016-03-14 00:00:00
abstract::Rapid vertebrate diversity evaluation is invaluable for monitoring changing ecosystems worldwide. Wild blow flies naturally recover DNA and chemical signatures from animal carcasses and feces. We demonstrate the power of blow flies as biodiversity monitors through sampling of flies in three environments with varying h...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-019-46758-9
更新日期:2019-07-22 00:00:00
abstract::EU biodiversity conservation policy is based on the Habitats Directive (92/43/EC), which aims that habitat types and species of Community interest should reach 'favourable conservation status'. To this end, Member States are obliged to perform periodic assessment of species and habitat conservation status through biod...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-017-09316-9
更新日期:2017-08-21 00:00:00
abstract::The Asian citrus psyllid (ACP; Diaphorina citri) is the vector of Candidatus Liberibacter asiaticus (CLas) that is associated with the devastating Huanglongbing (HLB; citrus greening disease). This pest of Asian origin has spread into the Americas and more recently into a few countries in East Africa. During recent su...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-020-66380-4
更新日期:2020-06-10 00:00:00
abstract::Mercury pollution in soil poses serious risks to human health through consumption of contaminated vegetables. We used a meta-analysis to examine the mercury enrichment ability of different vegetables and the main factors affecting mercury uptake. We drew the following conclusions. (1) Plants with a lower bioconcentrat...
journal_title:Scientific reports
pub_type: 杂志文章,meta分析
doi:10.1038/s41598-018-19519-3
更新日期:2018-01-19 00:00:00
abstract::Prognostic biomarkers serve a variety of purposes in cancer treatment and research, such as prediction of cancer progression, and treatment eligibility. Despite growing interest in multi-omic data integration for defining prognostic biomarkers, validated methods have been slow to emerge. Given that breast cancer has b...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-018-23494-0
更新日期:2018-03-26 00:00:00
abstract::Clogging of porous media by soft particles has become a subject of extensive research in the last years and the understanding of the clogging mechanisms is of great importance for process optimization. The rise in the utilization of microfluidic devices brought the possibility to simulate membrane filtration and perfo...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-019-45791-y
更新日期:2019-06-25 00:00:00
abstract::There is a growing interest concerning the relevance of salivary cortisone levels in stress-related research. However, studies investigating morning patterns and day-to-day variability of cortisone versus cortisol levels are lacking. Cortisol and cortisone analysis by liquid chromatography-tandem mass spectroscopy (LC...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-019-55571-3
更新日期:2019-12-17 00:00:00
abstract::Free-living amoebae are well known for their role in controlling microbial community composition through grazing, but some groups, namely Acanthamoeba species, also frequently serve as hosts for bacterial symbionts. Here we report the first identification of a bacterial symbiont in the testate amoeba Cochliopodium. Th...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-017-03642-8
更新日期:2017-06-13 00:00:00
abstract::The sweetpotato whitefly Bemisia tabaci (Gennadius) was challenged with different combinations of matrine (insecticide) and Lecanicillium muscarium (entomopathogenic fungus). Our results revealed a synergistic relationship between matrine and L. muscarium on mortality and enzyme activities of B. tabaci. To illustrate ...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/srep46558
更新日期:2017-04-20 00:00:00
abstract::MicroRNAs (miRNAs) play an important role in guiding development and maintaining function of the human heart. Dysregulation of miRNAs has been linked to various congenital heart diseases including Tetralogy of Fallot (TOF), which represents the most common cyanotic heart malformation in humans. Several studies have id...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-019-55570-4
更新日期:2019-12-13 00:00:00
abstract::Stony corals form the foundation of coral reef ecosystems. Their phylogeny is characterized by a deep evolutionary divergence that separates corals into a robust and complex clade dating back to at least 245 mya. However, the genomic consequences and clade-specific evolution remain unexplored. In this study we have pr...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-017-17484-x
更新日期:2017-12-14 00:00:00
abstract::We aimed to discover novel associations between leptin and circulating proteins which could link leptin to the development of cardiovascular disease in patients with type 2 diabetes (T2DM). In a discovery phase, we investigated associations between 88 plasma proteins, assessed with a proximity extension assay, and pla...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-020-69473-2
更新日期:2020-08-04 00:00:00