当前位置： SCI文献检索 > Genes期刊下所有文献 > Next generation DNA sequencing and the future of genomic medicine.

Next generation DNA sequencing and the future of genomic medicine.

Abstract：

:In the years since the first complete human genome sequence was reported, there has been a rapid development of technologies to facilitate high-throughput sequence analysis of DNA (termed "next-generation" sequencing). These novel approaches to DNA sequencing offer the promise of complete genomic analysis at a cost feasible for routine clinical diagnostics. However, the ability to more thoroughly interrogate genomic sequence raises a number of important issues with regard to result interpretation, laboratory workflow, data storage, and ethical considerations. This review describes the current high-throughput sequencing platforms commercially available, and compares the inherent advantages and disadvantages of each. The potential applications for clinical diagnostics are considered, as well as the need for software and analysis tools to interpret the vast amount of data generated. Finally, we discuss the clinical and ethical implications of the wealth of genetic information generated by these methods. Despite the challenges, we anticipate that the evolution and refinement of high-throughput DNA sequencing technologies will catalyze a new era of personalized medicine based on individualized genomic analysis.

journal_name

Genes (Basel)

journal_title

Genes

authors

Anderson MW,Schrijver I

doi

10.3390/genes1010038

subject

Has Abstract

pub_date

2010-05-25 00:00:00

pages

38-69

issue

1

issn

2073-4425

pii

genes1010038

journal_volume

1

pub_type

杂志文章

相关文献

Genes文献大全
  • From Genotype to Phenotype: Through Chromatin.

    abstract：:Advances in sequencing technologies have enabled the exploration of the genetic basis for several clinical disorders by allowing identification of causal mutations in rare genetic diseases. Sequencing technology has also facilitated genome-wide association studies to gather single nucleotide polymorphisms in common di...

    journal_title：Genes

    pub_type： 杂志文章,评审

    doi：10.3390/genes10020076

    authors： Romanowska J,Joshi A

    更新日期：2019-01-23 00:00:00

  • Transcriptional Basis for Differential Thermosensitivity of Seedlings of Various Tomato Genotypes.

    abstract：:Transcriptional reprograming after the exposure of plants to elevated temperatures is a hallmark of stress response which is required for the manifestation of thermotolerance. Central transcription factors regulate the stress survival and recovery mechanisms and many of the core responses controlled by these factors a...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes11060655

    authors： Hu Y,Fragkostefanakis S,Schleiff E,Simm S

    更新日期：2020-06-16 00:00:00

  • Inhibition of the Lipid Droplet-Peroxisome Proliferator-Activated Receptor α Axis Suppresses Cancer Stem Cell Properties.

    abstract：:Cancer stem cells (CSCs), having both self-renewal and tumorigenic capacity, utilize an energy metabolism system different from that of non-CSCs. Lipid droplets (LDs) are organelles that store neutral lipids, including triacylglycerol. Previous studies demonstrated that LDs are formed and store lipids as an energy sou...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes12010099

    authors： Kuramoto K,Yamamoto M,Suzuki S,Togashi K,Sanomachi T,Kitanaka C,Okada M

    更新日期：2021-01-14 00:00:00

  • Insights into Xylan Degradation and Haloalkaline Adaptation through Whole-Genome Analysis of Alkalitalea saponilacus, an Anaerobic Haloalkaliphilic Bacterium Capable of Secreting Novel Halostable Xylanase.

    abstract：:The obligately anaerobic haloalkaliphilic bacterium Alkalitalea saponilacus can use xylan as the sole carbon source and produce propionate as the main fermentation product. Using mixed carbon sources of 0.4% (w/v) sucrose and 0.1% (w/v) birch xylan, xylanase production from A. saponilacus was 3.2-fold greater than tha...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes10010001

    authors： Liao Z,Holtzapple M,Yan Y,Wang H,Li J,Zhao B

    更新日期：2018-12-20 00:00:00

  • Delimiting Coalescence Genes (C-Genes) in Phylogenomic Data Sets.

    abstract：:coalescence methods have emerged as a popular alternative for inferring species trees with large genomic datasets, because these methods explicitly account for incomplete lineage sorting. However, statistical consistency of summary coalescence methods is not guaranteed unless several model assumptions are true, includ...

    journal_title：Genes

    pub_type： 杂志文章,评审

    doi：10.3390/genes9030123

    authors： Springer MS,Gatesy J

    更新日期：2018-02-26 00:00:00

  • Impact of HVT Vaccination on Splenic miRNA Expression in Marek's Disease Virus Infections.

    abstract：:Marek's Disease is a lymphoproliferative disease of chickens caused by Marek's Disease Virus. Similar to other herpesviruses, Marek's Disease Virus (MDV) encodes its own small non-coding regulatory RNAs termed microRNAs (miRNAs). We previously found that the expression profile of these viral miRNAs is affected by vacc...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes10020115

    authors： Hicks JA,Liu HC

    更新日期：2019-02-05 00:00:00

  • Embedded Disposable Functionalized Electrochemical Biosensor with a 3D-Printed Flow Cell for Detection of Hepatic Oval Cells (HOCs).

    abstract：:Hepatic oval cells (HOCs) are considered the progeny of the intrahepatic stem cells that are found in a small population in the liver after hepatocyte proliferation is inhibited. Due to their small number, isolation and capture of these cells constitute a challenging task for immunosensor technology. This work describ...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes9020089

    authors： Damiati S,Peacock M,Leonhardt S,Damiati L,Baghdadi MA,Becker H,Kodzius R,Schuster B

    更新日期：2018-02-14 00:00:00

  • Whether Gametophytes are Reduced or Unreduced in Angiosperms Might Be Determined Metabolically.

    abstract：:In angiosperms, meiotic failure coupled with the formation of genetically unreduced gametophytes in ovules (apomeiosis) constitute major components of gametophytic apomixis. These aberrant developmental events are generally thought to be caused by mutation. However, efforts to locate the responsible mutations have fai...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes11121449

    authors： Mateo de Arias M,Gao L,Sherwood DA,Dwivedi KK,Price BJ,Jamison M,Kowallis BM,Carman JG

    更新日期：2020-12-02 00:00:00

  • Pipeline for the Rapid Development of Cytogenetic Markers Using Genomic Data of Related Species.

    abstract：:Repetitive DNA including tandem repeats (TRs) is a significant part of most eukaryotic genomes. TRs include rapidly evolving satellite DNA (satDNA) that can be shared by closely related species, their abundance may be associated with evolutionary divergence, and they have been widely used for chromosome karyotyping us...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes10020113

    authors： Kroupin P,Kuznetsova V,Romanov D,Kocheshkova A,Karlov G,Dang TX,Khuat TML,Kirov I,Alexandrov O,Polkhovskiy A,Razumova O,Divashuk M

    更新日期：2019-02-01 00:00:00

  • A Pan-Genome Guided Metabolic Network Reconstruction of Five Propionibacterium Species Reveals Extensive Metabolic Diversity.

    abstract：:Propionibacteria have been studied extensively since the early 1930s due to their relevance to industry and importance as human pathogens. Still, their unique metabolism is far from fully understood. This is partly due to their signature high GC content, which has previously hampered the acquisition of quality sequenc...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes11101115

    authors： McCubbin T,Gonzalez-Garcia RA,Palfreyman RW,Stowers C,Nielsen LK,Marcellin E

    更新日期：2020-09-23 00:00:00

  • Genome-Wide Identification and Characterization of Olfactory Receptor Genes in Chinese Perch, Siniperca chuatsi.

    abstract：:Olfaction, which is mediated by olfactory receptor (OR) genes, is essential in the daily life of fish, especially in foraging. However, Chinese perch (Siniperca chuatsi) is believed to prey with reliance on vision and lateral sensation, but not on olfaction. Therefore, understanding the evolutionary dynamics of the Ch...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes10020178

    authors： Lv LY,Liang XF,He S

    更新日期：2019-02-25 00:00:00

  • Complete Range of the Universal mtDNA Gene Pool and High Genetic Diversity in the Thai Dog Population.

    abstract：:The dog population of Southern East Asia is unique in harboring virtually the full range of the universal mtDNA gene pool, and consequently, it has the highest genetic diversity worldwide. Despite this, limited research has been performed on dog genetics within this region. Here we present the first comprehensive stud...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes11030253

    authors： Zhang L,Liu Y,Thai Ke Q,Ardalan A,Boonyaprakob U,Savolainen P

    更新日期：2020-02-27 00:00:00

  • Unravelling the Roles of Susceptibility Loci for Autoimmune Diseases in the Post-GWAS Era.

    abstract：:Although genome-wide association studies (GWAS) have identified several hundred loci associated with autoimmune diseases, their mechanistic insights are still poorly understood. The human genome is more complex than single nucleotide polymorphisms (SNPs) that are interrogated by GWAS arrays. Apart from SNPs, it also c...

    journal_title：Genes

    pub_type： 杂志文章,评审

    doi：10.3390/genes9080377

    authors： Ye J,Gillespie KM,Rodriguez S

    更新日期：2018-07-27 00:00:00

  • Identification of QTLs for Resistance to Fusarium Head Blight Using a Doubled Haploid Population Derived from Southeastern United States Soft Red Winter Wheat Varieties AGS 2060 and AGS 2035.

    abstract：:Fusarium head blight (FHB), caused primarily by the fungus Fusarium graminearum, is one of the most damaging diseases of wheat, causing significant loss of yield and quality worldwide. Warm and wet conditions during flowering, a lack of resistant wheat varieties, and high inoculum pressure from corn stubble contribute...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes11060699

    authors： Castro Aviles A,Alan Harrison S,Joseph Arceneaux K,Brown-Guidera G,Esten Mason R,Baisakh N

    更新日期：2020-06-25 00:00:00

  • DNA Methylation Profiling of Human Prefrontal Cortex Neurons in Heroin Users Shows Significant Difference between Genomic Contexts of Hyper- and Hypomethylation and a Younger Epigenetic Age.

    abstract：:We employed Illumina 450 K Infinium microarrays to profile DNA methylation (DNAm) in neuronal nuclei separated by fluorescence-activated sorting from the postmortem orbitofrontal cortex (OFC) of heroin users who died from heroin overdose (N = 37), suicide completers (N = 22) with no evidence of heroin use and from con...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes8060152

    authors： Kozlenkov A,Jaffe AE,Timashpolsky A,Apontes P,Rudchenko S,Barbu M,Byne W,Hurd YL,Horvath S,Dracheva S

    更新日期：2017-05-30 00:00:00

  • Paternal Uniparental Disomy of the Entire Chromosome 20 in a Child with Beckwith-Wiedemann Syndrome.

    abstract：:Epigenetic alterations at imprinted genes on different chromosomes have been linked to several imprinting disorders (IDs) such as Beckwith-Wiedemann syndrome (BWS) and pseudohypoparathyroidism type 1b (PHP1b). Here, we present a male patient with these two distinct IDs caused by two independent mechanisms-loss of meth...

    journal_title：Genes

    pub_type：

    doi：10.3390/genes12020172

    authors： Choufani S,Ko JM,Lou Y,Shuman C,Fishman L,Weksberg R

    更新日期：2021-01-27 00:00:00

  • ALT: A Multi-Faceted Phenomenon.

    abstract：:One of the hallmarks of cancer cells is their indefinite replicative potential, made possible by the activation of a telomere maintenance mechanism (TMM). The majority of cancers reactivate the reverse transcriptase, telomerase, to maintain their telomere length but a minority (10% to 15%) utilize an alternative lengt...

    journal_title：Genes

    pub_type： 杂志文章,评审

    doi：10.3390/genes11020133

    authors： Sommer A,Royle NJ

    更新日期：2020-01-27 00:00:00

  • Technologies for Pharmacogenomics: A Review.

    abstract：:The continuous development of new genotyping technologies requires awareness of their potential advantages and limitations concerning utility for pharmacogenomics (PGx). In this review, we provide an overview of technologies that can be applied in PGx research and clinical practice. Most commonly used are single nucle...

    journal_title：Genes

    pub_type： 杂志文章,评审

    doi：10.3390/genes11121456

    authors： van der Lee M,Kriek M,Guchelaar HJ,Swen JJ

    更新日期：2020-12-04 00:00:00

  • Transcriptome Analysis Reveals Long Intergenic Noncoding RNAs Contributed to Growth and Meat Quality Differences between Yorkshire and Wannanhua Pig.

    abstract：:There are major differences between Yorkshire (lean-type) and Wannanhua pig (fat-type) in terms of growth performance and meat quality. Long intergenic noncoding RNAs (lincRNAs) are a class of regulators that are involved in numerous biological processes and widely identified in many species. However, the role of linc...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes8080203

    authors： Zou C,Li S,Deng L,Guan Y,Chen D,Yuan X,Xia T,He X,Shan Y,Li C

    更新日期：2017-08-18 00:00:00

  • Multigene Expression Assay for Assessment of the Immune Status of Atlantic Salmon.

    abstract：:We report the development of a multigene gene expression assay on the BioMark HD platform for the evaluation of immune competence (ImCom) in farmed Atlantic salmon. The first version of the assay included 92 genes selected on the basis of transcriptome analyses in 54 trials that challenged the immune system; annotatio...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes11111236

    authors： Krasnov A,Afanasyev S,Nylund S,Rebl A

    更新日期：2020-10-22 00:00:00

  • Genetically Determined Physical Activity and Its Association with Circulating Blood Cells.

    abstract：:Lower levels of physical activity (PA) have been associated with increased risk of cardiovascular disease. Worldwide, there is a shift towards a lifestyle with less PA, posing a serious threat to public health. One of the suggested mechanisms behind the association between PA and disease development is through systemi...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes10110908

    authors： Prins FM,Said MA,van de Vegte YJ,Verweij N,Groot HE,van der Harst P

    更新日期：2019-11-07 00:00:00

  • Cytogenetics in Arctica islandica (Bivalvia, Arctidae): the Longest Lived Non-Colonial Metazoan.

    abstract：:Due to its extraordinary longevity and wide distribution, the ocean quahog Arctica islandica has become an important species model in both aging and environmental change research. Notwithstanding that, most genetic studies on ocean quahogs have been focused on fishery related, phylogeographic and phylogenetic aspects ...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes9060299

    authors： García-Souto D,Pasantes JJ

    更新日期：2018-06-13 00:00:00

  • Targeting MDM4 Splicing in Cancers.

    abstract：:MDM4, an essential negative regulator of the P53 tumor suppressor, is frequently overexpressed in cancer cells that harbor a wild-type P53. By a mechanism based on alternative splicing, the MDM4 gene generates two mutually exclusive isoforms: MDM4-FL, which encodes the full-length MDM4 protein, and a shorter splice va...

    journal_title：Genes

    pub_type： 杂志文章,评审

    doi：10.3390/genes8020082

    authors： Bardot B,Toledo F

    更新日期：2017-02-20 00:00:00

  • Immature Immunoglobulin Gene Rearrangements Are Recurrent in B Precursor Adult Acute Lymphoblastic Leukemia Carrying TP53 Molecular Alterations.

    abstract：:Here, we describe the immunoglobulin and T cell receptor (Ig/TCR) molecular rearrangements identified as a leukemic clone hallmark for minimal residual disease assessment in relation to TP53 mutational status in 171 Ph-negative Acute Lymphoblastic Leukemia (ALL) adult patients at diagnosis. The presence of a TP53 alte...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes11090960

    authors： Salmoiraghi S,Cavagna R,Guinea Montalvo ML,Ubiali G,Tosi M,Peruta B,Intermesoli T,Oldani E,Salvi A,Pavoni C,Giussani U,Bassan R,Rambaldi A,Spinelli O

    更新日期：2020-08-20 00:00:00

  • Cryptic Diversity Hidden within the Leafminer Genus Liriomyza (Diptera: Agromyzidae).

    abstract：:Leafminer insects of the genus Liriomyza are small flies whose larvae feed on the internal tissue of some of the most important crop plants for the human diet. Several of these pest species are highly uniform from the morphological point of view, meaning molecular data represents the only reliable taxonomic tool usefu...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes9110554

    authors： Carapelli A,Soltani A,Leo C,Vitale M,Amri M,Mediouni-Ben Jemâa J

    更新日期：2018-11-15 00:00:00

  • Comprehensive Analysis of Differentially Expressed Profiles of mRNA, lncRNA, and circRNA in the Uterus of Seasonal Reproduction Sheep.

    abstract：:Photoperiod is one of the important factors leading to seasonal reproduction of sheep. However, the molecular mechanisms underlying the photoperiod regulation of seasonal reproduction remain poorly understood. In this study, we compared the expression profiles of mRNAs, lncRNAs, and circRNAs in uterine tissues from Su...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes11030301

    authors： La Y,He X,Zhang L,Di R,Wang X,Gan S,Zhang X,Zhang J,Hu W,Chu M

    更新日期：2020-03-12 00:00:00

  • Erratum: Gu, S. et al. Error-Free Bypass of 7,8-dihydro-8-oxo-2'-deoxyguanosine by DNA Polymerase of Pseudomonas aeruginosa Phage PaP1. Genes 2017, 8, 18.

    abstract：:n/a. ...

    journal_title：Genes

    pub_type： 杂志文章,已发布勘误

    doi：10.3390/genes8030091

    authors： Gu S,Xue Q,Liu Q,Xiong M,Wang W,Zhang H

    更新日期：2017-03-03 00:00:00

  • The RabGAP Gene Family in Tomato (Solanum lycopersicum) and Wild Relatives: Identification, Interaction Networks, and Transcriptional Analysis during Plant Development and in Response to Salt Stress.

    abstract：:RabGTPase activating proteins (RabGAP) are responsible for directing the deactivation of vesicular trafficking master regulators associated to plant development, the RabGTPase proteins. Recently, RabGAPs were identified in Arabidopsis and rice, but studies were not yet reported in tomato. Herein, we identified 24 RabG...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes10090638

    authors： Madrid-Espinoza J,Salinas-Cornejo J,Ruiz-Lara S

    更新日期：2019-08-23 00:00:00

  • Evaluation of DNA Extraction Methods Developed for Forensic and Ancient DNA Applications Using Bone Samples of Different Age.

    abstract：:The efficient extraction of DNA from challenging samples, such as bones, is critical for the success of downstream genotyping analysis in molecular genetic disciplines. Even though the ancient DNA community has developed several protocols targeting small DNA fragments that are typically present in decomposed or old sp...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes12020146

    authors： Xavier C,Eduardoff M,Bertoglio B,Amory C,Berger C,Casas-Vargas A,Pallua J,Parson W

    更新日期：2021-01-22 00:00:00

  • Prospects and limitations of using endogenous neural stem cells for brain regeneration.

    abstract：:Neural stem cells (NSCs) are capable of producing a variety of neural cell types, and are indispensable for the development of the mammalian brain. NSCs can be induced in vitro from pluripotent stem cells, including embryonic stem cells and induced-pluripotent stem cells. Although the transplantation of these exogenou...

    journal_title：Genes

    pub_type： 杂志文章

    doi：10.3390/genes2010107

    authors： Kaneko N,Kako E,Sawamoto K

    更新日期：2011-01-14 00:00:00