Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study.

Abstract:

:With the development of next generation sequencing, more and more common inherited diseases have been reported. However, accurate and convenient molecular diagnosis cannot be achieved easily because of the enormous size of disease causing mutations. In this study, we introduced a new single-step method for the genetic analysis of patients and carriers in real clinical settings. All kinds of disease causing mutations can be detected at the same time in patients with Mendelian diseases or carriers. First, we evaluated this technology using YH cell line DNA and 9 samples with known mutations. Accuracy and stability of 99.80% and 99.58% were achieved respectively. Then, a total of 303 patients were tested using our targeted NGS approaches, 50.17% of which were found to have deleterious mutations and molecular confirmation of the clinical diagnosis. We identified 219 disease causing mutations, 43.84% (96/219) of which has never been reported before. Additionally, we developed a new deleteriousness prediction method for nonsynonymous SNVs, and an automating annotation and diagnosis system for Mendelian diseases, thus greatly assisting and enhancing Mendelian diseases diagnosis and helping to make a precise diagnosis for patients with Mendelian diseases.

journal_name

Sci Rep

journal_title

Scientific reports

authors

Sun Y,Man J,Wan Y,Pan G,Du L,Li L,Yang Y,Qiu L,Gao Q,Dan H,Mao L,Cheng Z,Fan C,Yu J,Lin M,Kristiansen K,Shen Y,Wei X

doi

10.1038/s41598-018-30151-z

subject

Has Abstract

pub_date

2018-08-03 00:00:00

pages

11646

issue

1

issn

2045-2322

pii

10.1038/s41598-018-30151-z

journal_volume

8

pub_type

杂志文章
  • Oral CoQ10 attenuates high salt-induced hypertension by restoring neurotransmitters and cytokines in the hypothalamic paraventricular nucleus.

    abstract::High salt intake leads to an increase in some proinflammatory cytokines and neurotransmitters involved in the pathogenesis of hypertension. The purpose of this work was to know if oral administration of anti-oxidant and free-radical scavenger CoQ10 may attenuate high salt-induced hypertension via regulating neurotrans...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/srep30301

    authors: Gao HL,Yu XJ,Qi J,Yi QY,Jing WH,Sun WY,Cui W,Mu JJ,Yuan ZY,Zhao XF,Liu KL,Zhu GQ,Shi XL,Liu JJ,Kang YM

    更新日期:2016-07-25 00:00:00

  • Artemether ameliorates kidney injury by restoring redox imbalance and improving mitochondrial function in Adriamycin nephropathy in mice.

    abstract::The kidney is a high-energy demand organ rich in mitochondria especially renal tubular cells. Emerging evidence suggests that mitochondrial dysfunction, redox imbalance and kidney injury are interconnected. Artemether has biological effects by targeting mitochondria and exhibits potential therapeutic value for kidney ...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-020-80298-x

    authors: Han P,Cai Y,Wang Y,Weng W,Chen Y,Wang M,Zhan H,Yu X,Wang T,Shao M,Sun H

    更新日期:2021-01-14 00:00:00

  • TCRP1 transcriptionally regulated by c-Myc confers cancer chemoresistance in tongue and lung cancer.

    abstract::Previously, we cloned a new gene termed 'tongue cancer resistance-associated protein 1' (TCRP1), which modulates tumorigenesis, enhances cisplatin (cDDP) resistance in cancers, and may be a potential target for reversing drug resistance. However, the mechanisms for regulating TCRP1 expression remain unclear. Herein, w...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-017-03763-0

    authors: Jia X,Zhang Z,Luo K,Zheng G,Lu M,Song Y,Liu H,Qiu H,He Z

    更新日期:2017-06-16 00:00:00

  • Potentially-toxic and essential elements profile of AH1N1 patients in Mexico City.

    abstract::During spring of 2009, a new influenza virus AH1N1 spread in the world causing acute respiratory illness and death, resulting in the first influenza pandemic since 1968. Blood levels of potentially-toxic and essential elements of 40 pneumonia and confirmed AH1N1 were evaluated against two different groups of controls,...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/srep01284

    authors: Moya M,Bautista EG,Velázquez-González A,Vázquez-Gutiérrez F,Tzintzun G,García-Arreola ME,Castillejos M,Hernández A

    更新日期:2013-01-01 00:00:00

  • Effects of Atmospheric-Pressure N2, He, Air, and O2 Microplasmas on Mung Bean Seed Germination and Seedling Growth.

    abstract::Atmospheric-pressure N2, He, air, and O2 microplasma arrays have been used to investigate the effects of plasma treatment on seed germination and seedling growth of mung bean in aqueous solution. Seed germination and growth of mung bean were found to strongly depend on the feed gases used to generate plasma and plasma...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/srep32603

    authors: Zhou R,Zhou R,Zhang X,Zhuang J,Yang S,Bazaka K,Ken Ostrikov K

    更新日期:2016-09-01 00:00:00

  • Climate change is affecting mortality of weasels due to camouflage mismatch.

    abstract::Direct phenological mismatch caused by climate change can occur in mammals that moult seasonally. Two colour morphs of the weasel Mustela nivalis (M. n.) occur sympatrically in Białowieża Forest (NE Poland) and differ in their winter pelage colour: white in M. n. nivalis and brown in M. n. vulgaris. Due to their small...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-018-26057-5

    authors: Atmeh K,Andruszkiewicz A,Zub K

    更新日期:2018-05-24 00:00:00

  • The bacterial DNA repair protein Mfd confers resistance to the host nitrogen immune response.

    abstract::Production of reactive nitrogen species (NO) is a key step in the immune response following infections. NO induces lesions to bacterial DNA, thus limiting bacterial growth within hosts. Using two pathogenic bacteria, Bacillus cereus and Shigella flexneri, we show that the DNA-repair protein Mfd (Mutation-Frequency-Dec...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/srep29349

    authors: Guillemet E,Leréec A,Tran SL,Royer C,Barbosa I,Sansonetti P,Lereclus D,Ramarao N

    更新日期:2016-07-20 00:00:00

  • Growth rate control of flagellar assembly in Escherichia coli strain RP437.

    abstract::The flagellum is a rotary motor that enables bacteria to swim in liquids and swarm over surfaces. Numerous global regulators control flagellar assembly in response to cellular and environmental factors. Previous studies have also shown that flagellar assembly is affected by the growth-rate of the cell. However, a syst...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/srep41189

    authors: Sim M,Koirala S,Picton D,Strahl H,Hoskisson PA,Rao CV,Gillespie CS,Aldridge PD

    更新日期:2017-01-24 00:00:00

  • W-box and G-box elements play important roles in early senescence of rice flag leaf.

    abstract::Plant cis-elements play important roles in global regulation of gene expression. Based on microarray data from rice flag leaves during early senescence, we identified W-box and G-box cis-elements as positive regulators of senescence in the important rice variety Minghui 63. Both cis-elements were bound by leaf senesce...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/srep20881

    authors: Liu L,Xu W,Hu X,Liu H,Lin Y

    更新日期:2016-02-11 00:00:00

  • An improved scheme on decoy-state method for measurement-device-independent quantum key distribution.

    abstract::Quantum key distribution involving decoy-states is a significant application of quantum information. By using three-intensity decoy-states of single-photon-added coherent sources, we propose a practically realizable scheme on quantum key distribution which approaches very closely the ideal asymptotic case of an infini...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/srep15130

    authors: Wang D,Li M,Guo GC,Wang Q

    更新日期:2015-10-14 00:00:00

  • Loss of Parkinson's susceptibility gene LRRK2 promotes carcinogen-induced lung tumorigenesis.

    abstract::Pathological links between neurodegenerative disease and cancer are emerging. LRRK2 overactivity contributes to Parkinson's disease, whereas our previous analyses of public cancer patient data revealed that decreased LRRK2 expression is associated with lung adenocarcinoma (LUAD). The clinical and functional relevance ...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-021-81639-0

    authors: Lebovitz C,Wretham N,Osooly M,Milne K,Dash T,Thornton S,Tessier-Cloutier B,Sathiyaseelan P,Bortnik S,Go NE,Halvorsen E,Cederberg RA,Chow N,Dos Santos N,Bennewith KL,Nelson BH,Bally MB,Lam WL,Gorski SM

    更新日期:2021-01-22 00:00:00

  • Field generated nematic microflows via backflow mechanism.

    abstract::Generation of flow is an important aspect in microfluidic applications and generally relies on external pumps or embedded moving mechanical parts which pose distinct limitations and protocols on the use of microfluidic systems. A possible approach to avoid moving mechanical parts is to generate flow by changing some s...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-020-57944-5

    authors: Kos Ž,Ravnik M

    更新日期:2020-01-29 00:00:00

  • Dynamic changes of timing precision in timed actions during a behavioural task in guinea pigs.

    abstract::Temporal precision is a determinant of performance in various motor activities. Although the accuracy and precision of timing in activities have been previously measured and quantified, temporal dynamics with flexible precision have not been considered. Here, we examined the temporal dynamics in timed motor activities...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-020-76953-y

    authors: Nishimura M,Wang C,Shu R,Song WJ

    更新日期:2020-11-18 00:00:00

  • Author Correction: Epoxy toughening through high pressure and shear rate preprocessing.

    abstract::An amendment to this paper has been published and can be accessed via a link at the top of the paper. ...

    journal_title:Scientific reports

    pub_type: 已发布勘误

    doi:10.1038/s41598-019-55967-1

    authors: Zapico GF,Ohtake N,Akasaka H,Munoz-Guijosa JM

    更新日期:2019-12-24 00:00:00

  • Brain hubs in lesion models: Predicting functional network topology with lesion patterns in patients.

    abstract::Various important topological properties of healthy brain connectome have recently been identified. However, the manner in which brain lesion changes the functional network topology is unknown. We examined how critical specific brain areas are in the maintenance of network topology using multivariate support vector re...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-017-17886-x

    authors: Yuan B,Fang Y,Han Z,Song L,He Y,Bi Y

    更新日期:2017-12-20 00:00:00

  • Command Electro-Optical Switching of Photoaligned Liquid Crystal on Photopatterned Graphene.

    abstract::We report command electro-optical switching on photolithographically-patterned graphene into a high-density electrode pattern for a high-transmission in-plane-switching (IPS) liquid crystal device. A highly-effective liquid crystal photoalignment method is used to maximize the field-driven optical contrast of a protot...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-017-11903-9

    authors: Varanytsia A,Chien LC

    更新日期:2017-09-18 00:00:00

  • In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia-Telangiectasia patients.

    abstract::Short term treatment with low doses of glucocorticoid analogues has been shown to ameliorate neurological symptoms in Ataxia-Telangiectasia (A-T), a rare autosomal recessive multisystem disease that mainly affects the cerebellum, immune system, and lungs. Molecular mechanisms underlying this clinical observation are u...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-020-77352-z

    authors: Pozzi E,Giorgio E,Mancini C,Lo Buono N,Augeri S,Ferrero M,Di Gregorio E,Riberi E,Vinciguerra M,Nanetti L,Bianchi FT,Sassi MP,Costanzo V,Mariotti C,Funaro A,Cavalieri S,Brusco A

    更新日期:2020-11-19 00:00:00

  • Retinal Structure and Function in Eyes with Optic Nerve Hypoplasia.

    abstract::We investigated retinal structure and function in eyes with optic nerve hypoplasia (ONH). Twenty-nine eyes of 18 patients with ONH and 21 eyes of 21 control patients were analyzed. Spectral-domain optical coherence tomography (SD-OCT), full-field electroretinography (FF-ERG), and focal macular ERG (FM-ERG) were perfor...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/srep42480

    authors: Katagiri S,Nishina S,Yokoi T,Mikami M,Nakayama Y,Tanaka M,Azuma N

    更新日期:2017-02-16 00:00:00

  • Combining short and long read sequencing to characterize antimicrobial resistance genes on plasmids applied to an unauthorized genetically modified Bacillus.

    abstract::Antimicrobial resistance (AMR) is a major public health threat. Plasmids are able to transfer AMR genes among bacterial isolates. Whole genome sequencing (WGS) is a powerful tool to monitor AMR determinants. However, plasmids are difficult to reconstruct from WGS data. This study aimed to improve the characterization,...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-020-61158-0

    authors: Berbers B,Saltykova A,Garcia-Graells C,Philipp P,Arella F,Marchal K,Winand R,Vanneste K,Roosens NHC,De Keersmaecker SCJ

    更新日期:2020-03-09 00:00:00

  • Operational resilience: concepts, design and analysis.

    abstract::Building resilience into today's complex infrastructures is critical to the daily functioning of society and its ability to withstand and recover from natural disasters, epidemics, and cyber-threats. This study proposes quantitative measures that capture and implement the definition of engineering resilience advanced ...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/srep19540

    authors: Ganin AA,Massaro E,Gutfraind A,Steen N,Keisler JM,Kott A,Mangoubi R,Linkov I

    更新日期:2016-01-19 00:00:00

  • A training algorithm for networks of high-variability reservoirs.

    abstract::Physical reservoir computing approaches have gained increased attention in recent years due to their potential for low-energy high-performance computing. Despite recent successes, there are bounds to what one can achieve simply by making physical reservoirs larger. Therefore, we argue that a switch from single-reservo...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-020-71549-y

    authors: Freiberger M,Bienstman P,Dambre J

    更新日期:2020-09-02 00:00:00

  • Real-time locating and speed measurement of fibre fuse using optical frequency-domain reflectometry.

    abstract::We propose and experimentally demonstrate real-time locating and speed measurement of fibre fuse by analysing the Doppler shift of reflected light using optical frequency-domain reflectometry (OFDR). Our method can detect the start of a fibre fuse within 200 ms which is equivalent to a propagation distance of about 10...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/srep25585

    authors: Jiang S,Ma L,Fan X,Wang B,He Z

    更新日期:2016-05-05 00:00:00

  • The roles of RelA/(p)ppGpp in glucose-starvation induced adaptive response in the zoonotic Streptococcus suis.

    abstract::The (p)ppGpp signal molecules play a central role in the stringent response (SR) to adapt to nutrient starvation in bacteria, yet the carbohydrate starvation induced adaptive response and the roles of SR in this response is not well characterized, especially in Gram-positives. Here, two (p)ppGpp synthetases RelA and R...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/srep27169

    authors: Zhang T,Zhu J,Wei S,Luo Q,Li L,Li S,Tucker A,Shao H,Zhou R

    更新日期:2016-06-03 00:00:00

  • Higher Order Architecture of Designer Peptides Forms Bioinspired 10 nm siRNA Delivery System.

    abstract::The higher-order architecture observed in biological systems, like viruses, is very effective in nucleic acid transport. The replications of this system has been attempted with both synthetic and naturally occurring polymers with mixed results. Here we describe a peptide/siRNA quaternary complex that functions as an s...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-019-53462-1

    authors: Gamboa A,Urfano SF,Hernandez K,Fraser DA,Ayalew L,Slowinska K

    更新日期:2019-11-14 00:00:00

  • Mannan-modified adenovirus targeting TERT and VEGFR-2: A universal tumour vaccine.

    abstract::Antigen-presenting cells including dendritic cells (DCs) express mannan receptors (MR) on their surface, which can be exploited in cancer therapy by designing immune-stimulatory viruses coated with mannan-modified capsids that then bind to DCs and initiate a potent immune response. Although the combination of anti-ang...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/srep11275

    authors: Wang Y,Zhang J,Wu Y,Ding ZY,Luo XM,Liu J,Zhong WN,Deng GH,Xia XY,Deng YT,Wei YQ,Jiang Y

    更新日期:2015-06-18 00:00:00

  • High-performance thermochromic VO2-based coatings with a low transition temperature deposited on glass by a scalable technique.

    abstract::We report on high-performance thermochromic ZrO2/V0.982W0.018O2/ZrO2 coatings with a low transition temperature prepared on glass by a low-temperature scalable deposition technique. The V0.982W0.018O2 layers were deposited by a controlled high-power impulse magnetron sputtering of V target, combined with a simultaneou...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-020-68002-5

    authors: Kolenatý D,Vlček J,Bárta T,Rezek J,Houška J,Haviar S

    更新日期:2020-07-06 00:00:00

  • The microbiomes of blowflies and houseflies as bacterial transmission reservoirs.

    abstract::Blowflies and houseflies are mechanical vectors inhabiting synanthropic environments around the world. They feed and breed in fecal and decaying organic matter, but the microbiome they harbour and transport is largely uncharacterized. We sampled 116 individual houseflies and blowflies from varying habitats on three co...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/s41598-017-16353-x

    authors: Junqueira ACM,Ratan A,Acerbi E,Drautz-Moses DI,Premkrishnan BNV,Costea PI,Linz B,Purbojati RW,Paulo DF,Gaultier NE,Subramanian P,Hasan NA,Colwell RR,Bork P,Azeredo-Espin AML,Bryant DA,Schuster SC

    更新日期:2017-11-24 00:00:00

  • Author Correction: A global mass budget for positively buoyant macroplastic debris in the ocean.

    abstract::An amendment to this paper has been published and can be accessed via a link at the top of the paper. ...

    journal_title:Scientific reports

    pub_type: 已发布勘误

    doi:10.1038/s41598-020-58755-4

    authors: Lebreton L,Egger M,Slat B

    更新日期:2020-01-30 00:00:00

  • A Fossilized Energy Distribution of Lightning.

    abstract::When lightning strikes soil, it may generate a cylindrical tube of glass known as a fulgurite. The morphology of a fulgurite is ultimately a consequence of the energy of the lightning strike that formed it, and hence fulgurites may be useful in elucidating the energy distribution frequency of cloud-to-ground lightning...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/srep30586

    authors: Pasek MA,Hurst M

    更新日期:2016-07-28 00:00:00

  • High-effective approach from amino acid esters to chiral amino alcohols over Cu/ZnO/Al2O3 catalyst and its catalytic reaction mechanism.

    abstract::Developing the high-efficient and green synthetic method for chiral amino alcohols is an intriguing target. We have developed the Mg(2+)-doped Cu/ZnO/Al2O3 catalyst for hydrogenation of L-phenylalanine methyl ester to chiral L-phenylalaninol without racemization. The effect of different L-phenylalanine esters on this ...

    journal_title:Scientific reports

    pub_type: 杂志文章

    doi:10.1038/srep33196

    authors: Zhang S,Yu J,Li H,Mao D,Lu G

    更新日期:2016-09-13 00:00:00