Abstract：
:A major challenge in current exome sequencing in autosomal recessive (AR) families is the lack of an effective method to prioritize single-nucleotide variants (SNVs). AR families are generally too small for linkage analysis, and length of homozygous regions is unreliable for identification of causative variants. Various common filtering steps usually result in a list of candidate variants that cannot be narrowed down further or ranked. To prioritize shortlisted SNVs we consider each homozygous candidate variant together with a set of SNVs flanking it. We compare the resulting array of genotypes between an affected family member and a number of control individuals and argue that, in a family, differences between family member and controls should be larger for a pathogenic variant and SNVs flanking it than for a random variant. We assess differences between arrays in two individuals by the Hamming distance and develop a suitable test statistic, which is expected to be large for a causative variant and flanking SNVs. We prioritize candidate variants based on this statistic and applied our approach to six patients with known pathogenic variants and found these to be in the top 2 to 10 percentiles of ranks.
journal_name
Sci Repjournal_title
Scientific reportsauthors
Imai A,Nakaya A,Fahiminiya S,Tétreault M,Majewski J,Sakata Y,Takashima S,Lathrop M,Ott Jdoi
10.1038/srep12028subject
Has Abstractpub_date
2015-07-06 00:00:00pages
12028issn
2045-2322pii
srep12028journal_volume
5pub_type
杂志文章abstract：:We reconstructed the radiological dose for birds observed at 300 census sites in the 50-km northwest area affected by the accident at the Fukushima Daiichi nuclear power plant over 2011-2014. Substituting the ambient dose rate measured at the census points (from 0.16 to 31 μGy h(-1)) with the dose rate reconstructed f...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/srep16594
更新日期：2015-11-16 00:00:00
abstract：:By employing a single AlGaN layer with low Al composition, high quality and uniformity AlGaN/GaN heterostructures have been successfully grown on Si substrates by metal-organic chemical vapor deposition (MOCVD). The heterostructures exhibit a high electron mobility of 2150 cm(2)/Vs with an electron density of 9.3 × 10...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/srep23020
更新日期：2016-03-10 00:00:00
abstract：:Agamococcidians are enigmatic and poorly studied parasites of marine invertebrates with unexplored diversity and unclear relationships to other sporozoans such as the human pathogens Plasmodium and Toxoplasma. It is believed that agamococcidians are not capable of sexual reproduction, which is essential for life cycle...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-020-72287-x
更新日期：2020-09-28 00:00:00
abstract：:Most traits of agricultural importance are quantitative traits controlled by numerous genes. However, it remains unclear about the molecular mechanisms underpinning quantitative traits. Here, we report the molecular characteristics of the genes controlling three quantitative traits randomly selected from three diverse...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-020-66271-8
更新日期：2020-06-22 00:00:00
abstract：:We aimed to develop a brief, preclinical test to screen the reduced hippocampal volume that is a marker of early dementia [Cognitive Quotient (CQ) test]. We performed an observational study of adult subjects who underwent brain MRI in seven institutions from February 2018 to May 2019. The CQ test consists of five comp...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-020-74019-7
更新日期：2020-10-07 00:00:00
abstract：:Our study aimed to compare the ability of anthropometric obesity indices to predict MetS and to determine the sex-specific optimal cut-off values for MetS among Malaysian vegetarians. Body weight, height, waist circumference (WC), blood pressure (BP), fasting venous blood sample were collected from 273 vegetarians in ...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-020-78035-5
更新日期：2020-11-30 00:00:00
abstract：:Legionnaires' disease (LD) is an atypical pneumonia caused by the inhalation of Legionella. The methods used for the diagnosis of LD are direct culture of respiratory samples and urinary antigen detection. However, the sensitivity of culture is low, and the urinary antigen test is specific only for L. pneumophila sg1....
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-018-36924-w
更新日期：2019-01-24 00:00:00
abstract：:Herein, we examined the association between cytomegalovirus (CMV) coinfection and the progression of liver fibrosis in hepatitis C virus (HCV) infection, and investigated the effect of CMV coinfection on JAK-STAT pathway. CMV DNAemia was detected by PCR in DNA from controls (n = 120), and HCV patients with early (F0-F...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-017-10604-7
更新日期：2017-09-04 00:00:00
abstract：:Hyperentangled Bell-state analysis (HBSA) is an essential method in high-capacity quantum communication and quantum information processing. Here by replacing the two-qubit controlled-phase gate with the two-qubit SWAP gate, we propose a scheme to distinguish the 16 hyperentangled Bell states completely in both the pol...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/srep19497
更新日期：2016-01-19 00:00:00
abstract：:The Synlestidae (Odonata: Zygoptera) of southern Africa comprise some highly localized species. All but one species are endemic to South Africa, and many to the Cape Floristic Region. Here we present the first phylogenetic reconstruction of the southern African Synlestidae using nuclear and mitochondrial molecular dat...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-020-72001-x
更新日期：2020-09-15 00:00:00
abstract：:In this article we advance a cutting-edge methodology for the study of the dynamics of plant movements of nutation. Our approach, unlike customary kinematic analyses of shape, period, or amplitude, is based on three typical signatures of adaptively controlled processes and motions, as reported in the biological and be...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-020-76588-z
更新日期：2020-11-10 00:00:00
abstract：:Transgenic rice producing insecticidal proteins from Bacillus thuringiensis (Bt) could help protect the plants from damage by lepidopteran pests. However, one concern is the potential of Bt rice to harm non-target natural enemies, which play a vital role in pest control. In the present study, the potential effects of ...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-017-08173-w
更新日期：2017-08-10 00:00:00
abstract：:Current deep tissue microscopy techniques are mostly restricted to intensity mapping of fluorophores, which significantly limit their applications in investigating biochemical processes in vivo. We present a deep tissue multiplexed functional imaging method that probes multiple Förster resonant energy transfer (FRET) ...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/srep13991
更新日期：2015-09-21 00:00:00
abstract：:The epidermal growth factor receptor (EGFR) inhibitors such as erlotinib and gefitinib are widely used for treatment of non-small cell lung cancer (NSCLC), but they have shown limited efficacy in an unselected population of patients. The KRAS mutations, which are identified in approximately 20% of NSCLC patients, have...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-018-37059-8
更新日期：2019-01-24 00:00:00
abstract：:MicroRNAs hold great promise as biomarkers of disease. However, there are few efficient and robust methods for measuring microRNAs from low input samples. Here, we develop a high-throughput sequencing protocol that efficiently captures small RNAs while minimizing inherent biases associated with library production. The...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-018-38458-7
更新日期：2019-02-19 00:00:00
abstract：:Nanophotonic circuitry requires an ability to externally control and analyze optical signals tightly confined in subwavelength volumes. Various schemes of surface plasmon (SP) routing have been presented using active and passive metasurfaces. One of the most appealing approaches is the use of plasmonic spin-orbit inte...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-019-45513-4
更新日期：2019-06-20 00:00:00
abstract：:It is rigorously proved that ideal memcapacitors and meminductors are not passive or cyclo-passive devices. Equivalently, this implies that there exist excitation profiles that allow to extract more energy from the device than it is supplied with; so that their energy conversion efficiency exceeds 100%. This means tha...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-020-73833-3
更新日期：2020-10-07 00:00:00
abstract：:Monitoring one's actions is essential for goal-directed performance. In the event-related potential (ERP), errors are followed by fronto-centrally distributed negativities. These error(-related) negativity (Ne/ERN) amplitudes are often found to be attenuated in patients with Parkinson's disease (PD) compared to health...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/srep41222
更新日期：2017-01-24 00:00:00
abstract：:Influenza virus neuraminidase (NA) is the primary target for influenza therapeutics. Severe complications are often related to secondary pneumonia caused by Streptococcus pneumoniae (pneumococci), which also express NAs. Recently, a NA-mediated lethal synergism between influenza A viruses and pneumococci was described...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/srep27156
更新日期：2016-06-03 00:00:00
abstract：:A correction to this article has been published and is linked from the HTML version of this paper. The error has been fixed in the paper. ...
journal_title：Scientific reports
pub_type： 杂志文章,已发布勘误
doi：10.1038/s41598-017-18751-7
更新日期：2018-01-08 00:00:00
abstract：:(E)-Methyl-N'-nitrobenzylidene-benzenesulfonohydrazide (MNBBSH) compounds were synthesized using a condensation procedure from the derivatives of nitrobenzaldehyde and 4-Methyl-benzenesulfonylhydrazine, which crystallized in ethanol and methanol as well as characterized by FTIR, UV-Vis, 1H-NMR, and 13C-NMR. MNBBSH str...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-017-05703-4
更新日期：2017-07-19 00:00:00
abstract：:Rapid integration of high-quality functional devices in microchannels is in highly demand for miniature lab-on-a-chip applications. This paper demonstrates the embellishment of existing microfluidic devices with integrated micropatterns via femtosecond laser MRAF-based holographic patterning (MHP) microfabrication, wh...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/srep33281
更新日期：2016-09-13 00:00:00
abstract：:Measuring toxicity is one of the main steps in drug development. Hence, there is a high demand for computational models to predict the toxicity effects of the potential drugs. In this study, we used a dataset, which consists of four toxicity effects:mutagenic, tumorigenic, irritant and reproductive effects. The propos...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/srep38660
更新日期：2016-12-09 00:00:00
abstract：:Necrotizing enterocolitis (NEC) is a devastating gastrointestinal emergency of neonates. Epithelial tight junction (TJ) proteins, such as claudins, are essential for regulation and function of the intestinal barrier. Rho kinase (ROCK) affects cellular permeability and TJ regulation. We hypothesized that TJ protein cha...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-019-41442-4
更新日期：2019-03-21 00:00:00
abstract：:Silver nanorod arrays prepared by oblique angle deposition (AgOADs) represent versatile, simple and inexpensive substrates for high sensitivity surface enhanced Raman scattering (SERS) applications. Their anisotropic nature suggests that their optical responses such as the SERS signal, the depolarization ratio, reflec...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-017-04565-0
更新日期：2017-06-27 00:00:00
abstract：:Atomic force microscopy is used to conduct single-asperity friction measurements at a water-graphite interface. Local mapping of the frictional force, which is based on the degree of the cantilever twisting, shows nearly friction-free when a tip scans over a nanobubble. Surprisingly, apart from being gapless, the asso...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-018-21264-6
更新日期：2018-02-15 00:00:00
abstract：:Tropopause temperatures (TPTs) control the amount of stratospheric water vapour, which influences chemistry, radiation and circulation in the stratosphere, and is also an important driver of surface climate. Decadal variability and long-term trends in tropical TPTs as well as stratospheric water vapour are largely unk...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/srep29537
更新日期：2016-07-12 00:00:00
abstract：:Because of its multifactorial nature, predicting the presence of cancer using a single biomarker is difficult. We aimed to establish a novel machine-learning model for predicting hepatocellular carcinoma (HCC) using real-world data obtained during clinical practice. To establish a predictive model, we developed a mach...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-019-44022-8
更新日期：2019-05-30 00:00:00
abstract：:Monanchoxymycalin C (MomC) is a new marine pentacyclic guanidine alkaloid, recently isolated from marine sponge Monanchora pulchra by us. Here, anticancer activity and mechanism of action was investigated for the first time using a human prostate cancer (PCa) model. MomC was active in all PCa cell lines at low micromo...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-020-69751-z
更新日期：2020-08-06 00:00:00
abstract：:Serial 3-dimensional dental model superimposition provides a risk-free, detailed evaluation of morphological alterations on a patient's mouth. Here, we evaluated accuracy and precision of five palatal areas, used for superimposition of maxillary 3D digital dental casts. Sixteen pre- and post-orthodontic treatment dent...
journal_title：Scientific reports
pub_type： 杂志文章
doi：10.1038/s41598-017-06013-5
更新日期：2017-07-19 00:00:00
