Efficiency of PacBio long read correction by 2nd generation Illumina sequencing.

Abstract:

:Long sequencing reads offer unprecedented opportunities in analysis and reconstruction of complex genomic regions. However, the gain in sequence length is often traded for quality. Therefore, recently several approaches have been proposed (e.g. higher sequencing coverage, hybrid assembly or sequence correction) to enhance the quality of long sequencing reads. A simple and cost-effective approach includes use of the high quality 2nd generation sequencing data to improve the quality of long reads. We designed a dedicated testing procedure and selected universal programs for long read correction, which provide as the output sequences that can be used in further genomic and transcriptomic studies. Our results show that HALC is the best choice for correction of long PacBio reads, when both, read size and quality, are the main focus of the analysis. However, the tested tools show some unexpected behaviors, including read trimming and fragmentation.

journal_name

Genomics

journal_title

Genomics

authors

Mahmoud M,Zywicki M,Twardowski T,Karlowski WM

doi

10.1016/j.ygeno.2017.12.011

subject

Has Abstract

pub_date

2019-01-01 00:00:00

pages

43-49

issue

1

eissn

0888-7543

issn

1089-8646

pii

S0888-7543(17)30166-0

journal_volume

111

pub_type

杂志文章

相关文献

GENOMICS文献大全
  • Cloning of human chromosome 17-specific cDNAs using representational difference analysis and human-mouse hybrid cells.

    abstract::We employed cDNA representational difference analysis (RDA) with human-mouse somatic hybrid cells containing human chromosome 17 and obtained several cDNA clones specific for this chromosome. A cDNA library from PHA-stimulated T cells was screened with unknown cDNA clones obtained by RDA as probes. Subsequently, 1 com...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1997.4729

    authors: Tajima Y,Tashiro K,Camerini D

    更新日期:1997-06-01 00:00:00

  • The genes for MHC class II regulatory factors RFX1 and RFX2 are located on the short arm of chromosome 19.

    abstract::RFX1 is a transacting DNA-binding regulatory factor involved in the control of MHC class II gene expression. RFX2 is a structurally very similar protein with identical DNA binding features. A member of the family of RFX factors is affected in an autosomal recessive disease, MHC class II deficient combined immunodefici...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/0888-7543(92)90052-t

    authors: Pugliatti L,Derré J,Berger R,Ucla C,Reith W,Mach B

    更新日期:1992-08-01 00:00:00

  • The DNF15S2 locus at 3p21 is transcribed in normal lung and small cell lung cancer.

    abstract::Small cell lung cancer (SCLC) has been associated with a deletion of the short arm of chromosome 3. One SCLC cell line, H748, has an interstitial deletion of chromosome 3p and shows allele loss for the DNF15S2 locus detected by the probe lambda H3. Conservation of DNF15S2 sequences in mouse indicated that this human g...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/0888-7543(89)90342-x

    authors: Naylor SL,Marshall A,Hensel C,Martinez PF,Holley B,Sakaguchi AY

    更新日期:1989-04-01 00:00:00

  • Localization of three novel hybrid breakpoints and refinement of 18 marker assignments in the human 3cen-p21.1 region.

    abstract::Using the human/hamster cell line UCTP2A-3, we have generated and isolated three hybrids, each containing a novel human chromosome 3p break. All chromosome 3 materials distal to the breaks were lost. Two of the breakpoints were produced using aphidicolin induction; the third breakpoint occurred spontaneously. The aphi...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/s0888-7543(05)80110-7

    authors: Wang ND,Testa JR,Smith DI

    更新日期:1992-12-01 00:00:00

  • Rapid detection of mitochondrial sequence polymorphisms using multiplex solid-phase fluorescent minisequencing.

    abstract::This work describes a novel method, multiplex solid-phase fluorescent minisequencing, for the simultaneous detection of several point mutations and/or small deletions and insertions. The method is applied to the analysis of mitochondrial DNA polymorphisms for the purposes of individual identification. A database of 15...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1996.0247

    authors: Tully G,Sullivan KM,Nixon P,Stones RE,Gill P

    更新日期:1996-05-15 00:00:00

  • The SOX8 gene is located within 700 kb of the tip of chromosome 16p and is deleted in a patient with ATR-16 syndrome.

    abstract::SOX proteins are transcription factors that are characterized by a common DNA-binding motif known as the HMG domain. We describe the 5. 4-kb human SOX8 gene that codes for a 446-amino-acid protein and that is expressed strongly in brain and less abundantly in other tissues. SOX8 shows an overall identity of 47% to SOX...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1999.6060

    authors: Pfeifer D,Poulat F,Holinski-Feder E,Kooy F,Scherer G

    更新日期:2000-01-01 00:00:00

  • High fidelity of whole-genome amplified DNA on high-density single nucleotide polymorphism arrays.

    abstract::Current microarray technology allows researchers to genotype a large number of SNPs with relatively small amounts of DNA. Nevertheless, researchers and clinicians still frequently face the problem of acquiring enough high-quality DNA for analysis. Whole-genome amplification (WGA) methods offer a solution for this prob...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2008.08.007

    authors: Xing J,Watkins WS,Zhang Y,Witherspoon DJ,Jorde LB

    更新日期:2008-12-01 00:00:00

  • A high-resolution genetic map of the nervous locus on mouse chromosome 8.

    abstract::The nervous (nr) mutant mouse displays two gross recessive traits: both an exaggeration of juvenile hyperactivity and a pronounced ataxia become apparent during the third and fourth postnatal weeks. Using an intersubspecific intercross, we have established a high-resolution map of a segment of mouse chromosome 8 that ...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1997.5193

    authors: De Jager PL,Harvey D,Polydorides AD,Zuo J,Heintz N

    更新日期:1998-03-15 00:00:00

  • A radiation hybrid breakpoint map of the acute myeloid leukemia (AML) and limb-girdle muscular dystrophy 1A (LGMD1A) regions of chromosome 5q31 localizing 122 expressed sequences.

    abstract::We have constructed a high-resolution map of a 6-Mb interval of human chromosome 5, band q31, incorporating 175 sequence tagged sites, of which 33 are genetic polymorphisms and 122 are nonredundant expressed sequences. The map was assembled initially as a YAC contig, incorporating data from radiation hybrid maps. To i...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1999.5765

    authors: Horrigan SK,Bartoloni L,Speer MC,Fulton N,Kravarusic J,Ramesar R,Vance JM,Yamaoka LH,Westbrook CA

    更新日期:1999-04-01 00:00:00

  • Fingerprinting human chromosomes by polymerase chain reaction-mediated DNA amplification.

    abstract::We describe here a method for DNA fingerprinting of human chromosomes by Alu-polymerase chain reaction (PCR) amplification of DNA from monochromosomal hybrids, following digestion with restriction endonucleases. DNA digestion with restriction enzymes prior to PCR amplification reduces the total number of amplified fra...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/s0888-7543(05)80175-2

    authors: Sidhu MS,Helen BK,Athwal RS

    更新日期:1992-11-01 00:00:00

  • The Mass1frings mutation underlies early onset hearing impairment in BUB/BnJ mice, a model for the auditory pathology of Usher syndrome IIC.

    abstract::The human ortholog of the gene responsible for audiogenic seizure susceptibility in Frings and BUB/BnJ mice (mouse gene symbol Mass1) recently was shown to underlie Usher syndrome type IIC (USH2C). Here we report that the Mass1frings mutation is responsible for the early onset hearing impairment of BUB/BnJ mice. We fo...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2005.02.006

    authors: Johnson KR,Zheng QY,Weston MD,Ptacek LJ,Noben-Trauth K

    更新日期:2005-05-01 00:00:00

  • The human lamin B receptor/sterol reductase multigene family.

    abstract::LBR (lamin B receptor) is an integral protein of the inner nuclear membrane encoded by a gene on human chromosome 1q42.1. LBR has a nucleoplasmic, amino-terminal domain of approximately 200 amino acids followed by a carboxyl-terminal domain similar in sequence to yeast and plant sterol reductases. We have determined t...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1998.5615

    authors: Holmer L,Pezhman A,Worman HJ

    更新日期:1998-12-15 00:00:00

  • Genome scanning of human breast carcinomas using micro- and minisatellite core probes.

    abstract::We have analyzed tumor and lymphocyte DNA from six breast cancer patients by one- and two-dimensional DNA fingerprinting using micro- and minisatellite core probes to estimate the extent and nature of DNA alterations in tumors. Both approaches were compared regarding sensitivity in genome analysis. We find that the nu...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1993.1284

    authors: Hovig E,Mullaart E,Børresen AL,Uitterlinden AG,Vijg J

    更新日期:1993-07-01 00:00:00

  • Chromosomal assignment of the human genes coding for the major proteins of the desmosome junction, desmoglein DGI (DSG), desmocollins DGII/III (DSC), desmoplakins DPI/II (DSP), and plakoglobin DPIII (JUP).

    abstract::We have established PCR assays for the genes coding for the major proteins of the desmosome type of cell junction, the desmosomal cadherins DGI (desmoglein) and DGII/III (desmocollins), and the plaque proteins DPI/II (desmoplakin) and DPIII (plakoglobin) and used them to test human-mouse and human-rat somatic cell hyb...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/0888-7543(91)90446-l

    authors: Arnemann J,Spurr NK,Wheeler GN,Parker AE,Buxton RS

    更新日期:1991-07-01 00:00:00

  • Molecular cloning and characterization of a novel human CC chemokine, SCYA26.

    abstract::By searching the Expressed Sequence Tag database, a full-length cDNA for a novel human CC chemokine was cloned. This cDNA encoded a 94-amino-acid protein with a putative signal peptide of 26 amino acids. The deduced mature protein had the four conserved cysteine residues characteristic of CC chemokines and showed 44% ...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1999.5837

    authors: Guo RF,Ward PA,Hu SM,McDuffie JE,Huber-Lang M,Shi MM

    更新日期:1999-06-15 00:00:00

  • Construction and characterization of a NotI-BsuE linking library from the human X chromosome.

    abstract::We describe the construction and characterization of methylation-resistant sequence-tagged NotI linking clones specific for the X chromosome, referred to as NotI-BsuE linking clones. The approach consists of methylating the X-chromosome-specific cloned DNA with BsuE methylase (M. BsuE), an enzyme that methylates the f...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/0888-7543(91)90108-q

    authors: Arenstorf HP,Kandpal RP,Baskaran N,Parimoo S,Tanaka Y,Kitajima S,Yasukochi Y,Weissman SM

    更新日期:1991-09-01 00:00:00

  • Human phenol sulfotransferase STP2 gene: molecular cloning, structural characterization, and chromosomal localization.

    abstract::Sulfonation is an important pathway in the biotransformation of many drugs, xenobiotics, neurotransmitters, and steroid hormones. The thermostable (TS) form of phenol sulfotransferase (PST) preferentially catalyzes the sulfonation of "simple" planar phenols, and levels of activity of TS PST in human tissues are contro...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1996.0216

    authors: Her C,Raftogianis R,Weinshilboum RM

    更新日期:1996-05-01 00:00:00

  • Cloning, sequencing, gene organization, and localization of the human ribosomal protein RPL23A gene.

    abstract::The intron-containing gene for human ribosomal protein RPL23A has been cloned, sequenced, and localized. The gene is approximately 4.0 kb in length and contains five exons and four introns. All splice sites exactly match the AG/GT consensus rule. The transcript is about 0.6 kb and is detected in all tissues examined. ...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1997.5038

    authors: Fan W,Christensen M,Eichler E,Zhang X,Lennon G

    更新日期:1997-12-01 00:00:00

  • Striking bimodal methylation of the repeat unit of the tandem array encoding human U2 snRNA (the RNU2 locus).

    abstract::The genes encoding human U2 small nuclear RNA are arrayed in tandem (the RNU2 locus) and have undergone concerted evolution for >35 Myr. Tandem organization of repetitive sequences may facilitate recombination that underlies concerted evolution, but could risk instability. Since DNA methylation plays a crucial role in...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1999.6052

    authors: Jiang C,Liao D

    更新日期:1999-12-15 00:00:00

  • A risk signature of three autophagy-related genes for predicting lower grade glioma survival is associated with tumor immune microenvironment.

    abstract::Treatment for lower-grade gliomas (LGG) has been challenging. Though emerging approaches such as immunotherapy is promising, it is still faced with immune tolerance, an obstacle that may be overcome by targeting autophagy-related (ATG) genes. After identifying three differentially expressed ATG genes (RIPK2, MUL1 and ...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2020.10.008

    authors: Lin JZ,Lin N

    更新日期:2020-10-15 00:00:00

  • Comprehensive repertoire and phylogenetic analysis of the G protein-coupled receptors in human and mouse.

    abstract::Understanding differences in the repertoire of orthologous gene pairs is vital for interpretation of pharmacological and physiological experiments if conclusions are conveyed between species. Here we present a comprehensive dataset for G protein-coupled receptors (GPCRs) in both human and mouse with a phylogenetic roa...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2006.04.001

    authors: Bjarnadóttir TK,Gloriam DE,Hellstrand SH,Kristiansson H,Fredriksson R,Schiöth HB

    更新日期:2006-09-01 00:00:00

  • Correlation of serpin-protease expression by comparative analysis of real-time PCR profiling data.

    abstract::Imbalanced protease activity has long been recognized in the progression of disease states such as cancer and inflammation. Serpins, the largest family of endogenous protease inhibitors, target a wide variety of serine and cysteine proteases and play a role in a number of physiological and pathological states. The exp...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2006.03.017

    authors: Badola S,Spurling H,Robison K,Fedyk ER,Silverman GA,Strayle J,Kapeller R,Tsu CA

    更新日期:2006-08-01 00:00:00

  • pLoc_bal-mGpos: Predict subcellular localization of Gram-positive bacterial proteins by quasi-balancing training dataset and PseAAC.

    abstract::Knowledge of protein subcellular localization is vitally important for both basic research and drug development. With the avalanche of protein sequences emerging in the post-genomic age, it is highly desired to develop computational tools for timely and effectively identifying their subcellular localization purely bas...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2018.05.017

    authors: Xiao X,Cheng X,Chen G,Mao Q,Chou KC

    更新日期:2019-07-01 00:00:00

  • Fine-structure mapping of the murine IL-3 and GM-CSF genes by pulsed-field gel electrophoresis and molecular cloning.

    abstract::The hemopoietic growth factors interleukin-3 (IL-3, multi-CSF) and granulocyte-macrophage colony-stimulating factor (GM-CSF) belong to a family of secreted glycoproteins that stimulate the proliferation and differentiation of hemopoietic progenitor cells. IL-3 and GM-CSF have overlapping biological activities and show...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/0888-7543(89)90070-0

    authors: Lee JS,Young IG

    更新日期:1989-08-01 00:00:00

  • Evidence that the SRY protein is encoded by a single exon on the human Y chromosome.

    abstract::To facilitate studies of the SRY gene, a 4741-bp portion of the sex-determining region of the human Y chromosome was sequenced and characterized. Two RNAs were found to hybridize to this genomic segment, one transcript deriving from SRY and the second cross-hybridizing to a pseudogene located 2.5 kb 5' of the SRY open...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1993.1395

    authors: Behlke MA,Bogan JS,Beer-Romero P,Page DC

    更新日期:1993-09-01 00:00:00

  • Gene expression profiling in livers of mice after acute inhibition of beta-oxidation.

    abstract::Inborn errors of mitochondrial beta-oxidation cause ectopic fat accumulation, particularly in the liver. Fatty liver is associated with insulin resistance and predisposes to hepatic fibrosis. The factors underlying the pathophysiological consequences of hepatic fat accumulation have remained poorly defined. Gene expre...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2007.08.004

    authors: van der Leij FR,Bloks VW,Grefhorst A,Hoekstra J,Gerding A,Kooi K,Gerbens F,te Meerman G,Kuipers F

    更新日期:2007-12-01 00:00:00

  • Transcriptome profiling of different developmental stages of corpus luteum during the estrous cycle in pigs.

    abstract::To better understand the molecular basis of corpus luteum (CL) development and function RNA-Seq was utilized to identify differentially expressed genes (DEGs) in porcine CL during different physiological stages of the estrous cycle viz. early (EL), mid (ML), late (LL) and regressed (R) luteal. Stage wise comparisons o...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2020.12.008

    authors: Bharati J,Mohan NH,Kumar S,Gogoi J,Kumar S,Jose B,Punetha M,Borah S,Kumar A,Sarkar M

    更新日期:2021-01-01 00:00:00

  • The human MCP-2 gene (SCYA8): cloning, sequence analysis, tissue expression, and assignment to the CC chemokine gene contig on chromosome 17q11.2.

    abstract::Monocyte chemotactic proteins (MCPs) form a subfamily of chemokines that recruit leukocytes to sites of inflammation and that may contribute to tumor-associated leukocyte infiltration and to the antiviral state against HIV infection. With the use of degenerate primers that were based on CC chemokine consensus sequence...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1996.4594

    authors: Van Coillie E,Fiten P,Nomiyama H,Sakaki Y,Miura R,Yoshie O,Van Damme J,Opdenakker G

    更新日期:1997-03-01 00:00:00

  • Genetic analysis of circulating tumor cells in pancreatic cancer patients: A pilot study.

    abstract:UNLABELLED:Pancreatic cancer is one of the most aggressive malignant tumors, mainly due to an aggressive metastasis spreading. In recent years, circulating tumor cells became associated to tumor metastasis. Little is known about their expression profiles. The aim of this study was to develop a complete workflow making ...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2015.02.003

    authors: Görner K,Bachmann J,Holzhauer C,Kirchner R,Raba K,Fischer JC,Martignoni ME,Schiemann M,Alunni-Fabbroni M

    更新日期:2015-07-01 00:00:00

  • Physiological analysis and transcriptome sequencing reveal the effects of drier air humidity stress on Pterocarya stenoptera.

    abstract::Identifying physiological and transcriptomic changes can provide insights into the effects of drier air humidity stress on plants. In this study, we selected 6-month-old seedlings of Pterocarya stenoptera as study materials and used physiological index detection and transcriptome sequencing to investigate the adaptati...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2020.09.027

    authors: Ye XF,Li Y,Liu HL,He YX

    更新日期:2020-11-01 00:00:00