A universal and independent synthetic DNA ladder for the quantitative measurement of genomic features.

Abstract:

:Standard units of measurement are required for the quantitative description of nature; however, few standard units have been established for genomics to date. Here, we have developed a synthetic DNA ladder that defines a quantitative standard unit that can measure DNA sequence abundance within a next-generation sequencing library. The ladder can be spiked into a DNA sample, and act as an internal scale that measures quantitative genetics features. Unlike previous spike-ins, the ladder is encoded within a single molecule, and can be equivalently and independently synthesized by different laboratories. We show how the ladder can measure diverse quantitative features, including human genetic variation and microbial abundance, and also estimate uncertainty due to technical variation and improve normalization between libraries. This ladder provides an independent quantitative unit that can be used with any organism, application or technology, thereby providing a common metric by which genomes can be measured.

journal_name

Nat Commun

journal_title

Nature communications

authors

Reis ALM,Deveson IW,Wong T,Madala BS,Barker C,Blackburn J,Marcellin E,Mercer TR

doi

10.1038/s41467-020-17445-5

subject

Has Abstract

pub_date

2020-07-17 00:00:00

pages

3609

issue

1

issn

2041-1723

pii

10.1038/s41467-020-17445-5

journal_volume

11

pub_type

杂志文章
  • CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

    abstract::Chromatin remodeling is of crucial importance during brain development. Pathogenic alterations of several chromatin remodeling ATPases have been implicated in neurodevelopmental disorders. We describe an index case with a de novo missense mutation in CHD3, identified during whole genome sequencing of a cohort of child...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/s41467-018-06014-6

    authors: Snijders Blok L,Rousseau J,Twist J,Ehresmann S,Takaku M,Venselaar H,Rodan LH,Nowak CB,Douglas J,Swoboda KJ,Steeves MA,Sahai I,Stumpel CTRM,Stegmann APA,Wheeler P,Willing M,Fiala E,Kochhar A,Gibson WT,Cohen ASA,Agb

    更新日期:2018-11-05 00:00:00

  • A transient self-assembling self-replicator.

    abstract::Developing physical models of complex dynamic systems showing emergent behaviour is key to informing on persistence and replication in biology, how living matter emerges from chemistry, and how to design systems with new properties. Herein we report a fully synthetic small molecule system in which a surfactant replica...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/s41467-018-04670-2

    authors: Colomer I,Morrow SM,Fletcher SP

    更新日期:2018-06-08 00:00:00

  • Nuclear retention of the transcription factor NLP7 orchestrates the early response to nitrate in plants.

    abstract::Nitrate is both an important nutrient and a signalling molecule for plants. Although several components of the nitrate signalling pathway have been identified, their hierarchical organization remains unclear. Here we show that the localization of NLP7, a member of the RWP-RK transcription factor family, is regulated b...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/ncomms2650

    authors: Marchive C,Roudier F,Castaings L,Bréhaut V,Blondet E,Colot V,Meyer C,Krapp A

    更新日期:2013-01-01 00:00:00

  • Potential regime shift in decreased sea ice production after the Mertz Glacier calving.

    abstract::Variability in dense shelf water formation can potentially impact Antarctic Bottom Water (AABW) production, a vital component of the global climate system. In East Antarctica, the George V Land polynya system (142-150°E) is structured by the local 'icescape', promoting sea ice formation that is driven by the offshore ...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/ncomms1820

    authors: Tamura T,Williams GD,Fraser AD,Ohshima KI

    更新日期:2012-05-08 00:00:00

  • Perivascular cell-specific knockout of the stem cell pluripotency gene Oct4 inhibits angiogenesis.

    abstract::The stem cell pluripotency factor Oct4 serves a critical protective role during atherosclerotic plaque development by promoting smooth muscle cell (SMC) investment. Here, we show using Myh11-CreERT2 lineage-tracing with inducible SMC and pericyte (SMC-P) knockout of Oct4 that Oct4 regulates perivascular cell migration...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/s41467-019-08811-z

    authors: Hess DL,Kelly-Goss MR,Cherepanova OA,Nguyen AT,Baylis RA,Tkachenko S,Annex BH,Peirce SM,Owens GK

    更新日期:2019-02-27 00:00:00

  • Large-area and efficient perovskite light-emitting diodes via low-temperature blade-coating.

    abstract::Large-area light-emitting diodes (LEDs) fabricated by mass-production techniques are needed for low-cost flat-panel lighting. Nevertheless, it is still challenging to fabricate efficient large-area LEDs using organic small molecules (OLEDs), quantum dots (QLEDs), polymers (PLEDs), and recently-developed hybrid perovsk...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/s41467-020-20433-4

    authors: Chu S,Chen W,Fang Z,Xiao X,Liu Y,Chen J,Huang J,Xiao Z

    更新日期:2021-01-08 00:00:00

  • Frequent mutations in chromatin-remodelling genes in pulmonary carcinoids.

    abstract::Pulmonary carcinoids are rare neuroendocrine tumours of the lung. The molecular alterations underlying the pathogenesis of these tumours have not been systematically studied so far. Here we perform gene copy number analysis (n=54), genome/exome (n=44) and transcriptome (n=69) sequencing of pulmonary carcinoids and obs...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/ncomms4518

    authors: Fernandez-Cuesta L,Peifer M,Lu X,Sun R,Ozretić L,Seidal D,Zander T,Leenders F,George J,Müller C,Dahmen I,Pinther B,Bosco G,Konrad K,Altmüller J,Nürnberg P,Achter V,Lang U,Schneider PM,Bogus M,Soltermann A,Brustu

    更新日期:2014-03-27 00:00:00

  • Atrx inactivation drives disease-defining phenotypes in glioma cells of origin through global epigenomic remodeling.

    abstract::Mutational inactivation of the SWI/SNF chromatin regulator ATRX occurs frequently in gliomas, the most common primary brain tumors. Whether and how ATRX deficiency promotes oncogenesis by epigenomic dysregulation remains unclear, despite its recent implication in both genomic instability and telomere dysfunction. Here...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/s41467-018-03476-6

    authors: Danussi C,Bose P,Parthasarathy PT,Silberman PC,Van Arnam JS,Vitucci M,Tang OY,Heguy A,Wang Y,Chan TA,Riggins GJ,Sulman EP,Lang F,Creighton CJ,Deneen B,Miller CR,Picketts DJ,Kannan K,Huse JT

    更新日期:2018-03-13 00:00:00

  • Visualization of nanocrystal breathing modes at extreme strains.

    abstract::Nanoscale dimensions in materials lead to unique electronic and structural properties with applications ranging from site-specific drug delivery to anodes for lithium-ion batteries. These functional properties often involve large-amplitude strains and structural modifications, and thus require an understanding of the ...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/ncomms7577

    authors: Szilagyi E,Wittenberg JS,Miller TA,Lutker K,Quirin F,Lemke H,Zhu D,Chollet M,Robinson J,Wen H,Sokolowski-Tinten K,Lindenberg AM

    更新日期:2015-03-12 00:00:00

  • Female monopolization mediates the relationship between pre- and postcopulatory sexual traits.

    abstract::Theory predicts a trade-off between investments in precopulatory (ornaments and armaments) and postcopulatory (testes and ejaculates) sexual traits due to the costs associated with their growth and maintenance within the finite energy resources available. Empirical studies, however, have revealed considerable inconsis...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/ncomms4184

    authors: Lüpold S,Tomkins JL,Simmons LW,Fitzpatrick JL

    更新日期:2014-01-01 00:00:00

  • Free choice shapes normalized value signals in medial orbitofrontal cortex.

    abstract::Normalization is a common cortical computation widely observed in sensory perception, but its importance in perception of reward value and decision making remains largely unknown. We examined (1) whether normalized value signals occur in the orbitofrontal cortex (OFC) and (2) whether changes in behavioral task context...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/s41467-017-02614-w

    authors: Yamada H,Louie K,Tymula A,Glimcher PW

    更新日期:2018-01-11 00:00:00

  • Dimensionality reduction reveals fine-scale structure in the Japanese population with consequences for polygenic risk prediction.

    abstract::The diversity in our genome is crucial to understanding the demographic history of worldwide populations. However, we have yet to know whether subtle genetic differences within a population can be disentangled, or whether they have an impact on complex traits. Here we apply dimensionality reduction methods (PCA, t-SNE...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/s41467-020-15194-z

    authors: Sakaue S,Hirata J,Kanai M,Suzuki K,Akiyama M,Lai Too C,Arayssi T,Hammoudeh M,Al Emadi S,Masri BK,Halabi H,Badsha H,Uthman IW,Saxena R,Padyukov L,Hirata M,Matsuda K,Murakami Y,Kamatani Y,Okada Y

    更新日期:2020-03-26 00:00:00

  • Two recipes for repelling hot water.

    abstract::Although a hydrophobic microtexture at a solid surface most often reflects rain owing to the presence of entrapped air within the texture, it is much more challenging to repel hot water. As it contacts a colder material, hot water generates condensation within the cavities at the solid surface, which eventually builds...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/s41467-019-09456-8

    authors: Mouterde T,Lecointre P,Lehoucq G,Checco A,Clanet C,Quéré D

    更新日期:2019-03-29 00:00:00

  • A spin torque meter with magnetic facet domains.

    abstract::Current-induced magnetic domain wall (DW) motion is an important operating principle of spintronic devices. Injected current generates spin torques (STs) on the DWs in two ways. One is the spin transfer from magnetic domains to the walls by the current flowing in the magnet. Current flow in attached heavy metals also ...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/s41467-018-06223-z

    authors: Moon KW,Kim C,Yoon J,Choi JW,Kim DO,Song KM,Kim D,Chun BS,Hwang C

    更新日期:2018-09-17 00:00:00

  • Muscleblind acts as a modifier of FUS toxicity by modulating stress granule dynamics and SMN localization.

    abstract::Mutations in fused in sarcoma (FUS) lead to amyotrophic lateral sclerosis (ALS) with varying ages of onset, progression and severity. This suggests that unknown genetic factors contribute to disease pathogenesis. Here we show the identification of muscleblind as a novel modifier of FUS-mediated neurodegeneration in vi...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/s41467-019-13383-z

    authors: Casci I,Krishnamurthy K,Kour S,Tripathy V,Ramesh N,Anderson EN,Marrone L,Grant RA,Oliver S,Gochenaur L,Patel K,Sterneckert J,Gleixner AM,Donnelly CJ,Ruepp MD,Sini AM,Zuccaro E,Pennuto M,Pasinelli P,Pandey UB

    更新日期:2019-12-06 00:00:00

  • Imaging fascicular organization of rat sciatic nerves with fast neural electrical impedance tomography.

    abstract::Imaging compound action potentials (CAPs) in peripheral nerves could help avoid side effects in neuromodulation by selective stimulation of identified fascicles. Existing methods have low resolution, limited imaging depth, or are invasive. Fast neural electrical impedance tomography (EIT) allows fascicular CAP imaging...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/s41467-020-20127-x

    authors: Ravagli E,Mastitskaya S,Thompson N,Iacoviello F,Shearing PR,Perkins J,Gourine AV,Aristovich K,Holder D

    更新日期:2020-12-07 00:00:00

  • TruePrime is a novel method for whole-genome amplification from single cells based on TthPrimPol.

    abstract::Sequencing of a single-cell genome requires DNA amplification, a process prone to introducing bias and errors into the amplified genome. Here we introduce a novel multiple displacement amplification (MDA) method based on the unique DNA primase features of Thermus thermophilus (Tth) PrimPol. TthPrimPol displays a poten...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/ncomms13296

    authors: Picher ÁJ,Budeus B,Wafzig O,Krüger C,García-Gómez S,Martínez-Jiménez MI,Díaz-Talavera A,Weber D,Blanco L,Schneider A

    更新日期:2016-11-29 00:00:00

  • DNA methylation at enhancers identifies distinct breast cancer lineages.

    abstract::Breast cancers exhibit genome-wide aberrant DNA methylation patterns. To investigate how these affect the transcriptome and which changes are linked to transformation or progression, we apply genome-wide expression-methylation quantitative trait loci (emQTL) analysis between DNA methylation and gene expression. On a w...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/s41467-017-00510-x

    authors: Fleischer T,Tekpli X,Mathelier A,Wang S,Nebdal D,Dhakal HP,Sahlberg KK,Schlichting E,Oslo Breast Cancer Research Consortium (OSBREAC).,Børresen-Dale AL,Borgen E,Naume B,Eskeland R,Frigessi A,Tost J,Hurtado A,Kristensen VN

    更新日期:2017-11-09 00:00:00

  • Exploring patterns enriched in a dataset with contrastive principal component analysis.

    abstract::Visualization and exploration of high-dimensional data is a ubiquitous challenge across disciplines. Widely used techniques such as principal component analysis (PCA) aim to identify dominant trends in one dataset. However, in many settings we have datasets collected under different conditions, e.g., a treatment and a...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/s41467-018-04608-8

    authors: Abid A,Zhang MJ,Bagaria VK,Zou J

    更新日期:2018-05-30 00:00:00

  • Active acetylcholine receptors prevent the atrophy of skeletal muscles and favor reinnervation.

    abstract::Denervation of skeletal muscles induces severe muscle atrophy, which is preceded by cellular alterations such as increased plasma membrane permeability, reduced resting membrane potential and accelerated protein catabolism. The factors that induce these changes remain unknown. Conversely, functional recovery following...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/s41467-019-14063-8

    authors: Cisterna BA,Vargas AA,Puebla C,Fernández P,Escamilla R,Lagos CF,Matus MF,Vilos C,Cea LA,Barnafi E,Gaete H,Escobar DF,Cardozo CP,Sáez JC

    更新日期:2020-02-26 00:00:00

  • Meta-neural-network for real-time and passive deep-learning-based object recognition.

    abstract::Analyzing scattered wave to recognize object is of fundamental significance in wave physics. Recently-emerged deep learning technique achieved great success in interpreting wave field such as in ultrasound non-destructive testing and disease diagnosis, but conventionally need time-consuming computer postprocessing or ...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/s41467-020-19693-x

    authors: Weng J,Ding Y,Hu C,Zhu XF,Liang B,Yang J,Cheng J

    更新日期:2020-12-09 00:00:00

  • The F-box protein FKF1 inhibits dimerization of COP1 in the control of photoperiodic flowering.

    abstract::In Arabidopsis thaliana, CONSTANS (CO) plays an essential role in the regulation of photoperiodic flowering under long-day conditions. CO protein is stable only in the afternoon of long days, when it induces the expression of FLOWERING LOCUS T (FT), which promotes flowering. The blue-light photoreceptor FLAVIN-BINDING...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/s41467-017-02476-2

    authors: Lee BD,Kim MR,Kang MY,Cha JY,Han SH,Nawkar GM,Sakuraba Y,Lee SY,Imaizumi T,McClung CR,Kim WY,Paek NC

    更新日期:2017-12-22 00:00:00

  • Discovery of first-in-class reversible dual small molecule inhibitors against G9a and DNMTs in hematological malignancies.

    abstract::The indisputable role of epigenetics in cancer and the fact that epigenetic alterations can be reversed have favoured development of epigenetic drugs. In this study, we design and synthesize potent novel, selective and reversible chemical probes that simultaneously inhibit the G9a and DNMTs methyltransferase activity....

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/ncomms15424

    authors: San José-Enériz E,Agirre X,Rabal O,Vilas-Zornoza A,Sanchez-Arias JA,Miranda E,Ugarte A,Roa S,Paiva B,Estella-Hermoso de Mendoza A,Alvarez RM,Casares N,Segura V,Martín-Subero JI,Ogi FX,Soule P,Santiveri CM,Campos-Olivas

    更新日期:2017-05-26 00:00:00

  • Introducing Biomedisa as an open-source online platform for biomedical image segmentation.

    abstract::We present Biomedisa, a free and easy-to-use open-source online platform developed for semi-automatic segmentation of large volumetric images. The segmentation is based on a smart interpolation of sparsely pre-segmented slices taking into account the complete underlying image data. Biomedisa is particularly valuable w...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/s41467-020-19303-w

    authors: Lösel PD,van de Kamp T,Jayme A,Ershov A,Faragó T,Pichler O,Tan Jerome N,Aadepu N,Bremer S,Chilingaryan SA,Heethoff M,Kopmann A,Odar J,Schmelzle S,Zuber M,Wittbrodt J,Baumbach T,Heuveline V

    更新日期:2020-11-04 00:00:00

  • Conformational transitions and stop-and-go nanopore transport of single-stranded DNA on charged graphene.

    abstract::Control over interactions with biomolecules holds the key to applications of graphene in biotechnology. One such application is nanopore sequencing, where a DNA molecule is electrophoretically driven through a graphene nanopore. Here we investigate how interactions of single-stranded DNA and a graphene membrane can be...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/ncomms6171

    authors: Shankla M,Aksimentiev A

    更新日期:2014-10-09 00:00:00

  • ALKBH8-mediated formation of a novel diastereomeric pair of wobble nucleosides in mammalian tRNA.

    abstract::Mammals have nine different homologues (ALKBH1-9) of the Escherichia coli DNA repair demethylase AlkB. ALKBH2 is a genuine DNA repair enzyme, but the in vivo function of the other ALKBH proteins has remained elusive. It was recently shown that ALKBH8 contains an additional transfer RNA (tRNA) methyltransferase domain,...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/ncomms1173

    authors: van den Born E,Vågbø CB,Songe-Møller L,Leihne V,Lien GF,Leszczynska G,Malkiewicz A,Krokan HE,Kirpekar F,Klungland A,Falnes PØ

    更新日期:2011-02-01 00:00:00

  • Assembly of complex viruses exemplified by a halophilic euryarchaeal virus.

    abstract::Many of the largest known viruses belong to the PRD1-adeno structural lineage characterised by conserved pseudo-hexameric capsomers composed of three copies of a single major capsid protein (MCP). Here, by high-resolution cryo-EM analysis, we show that a class of archaeal viruses possess hetero-hexameric MCPs which mi...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/s41467-019-09451-z

    authors: De Colibus L,Roine E,Walter TS,Ilca SL,Wang X,Wang N,Roseman AM,Bamford D,Huiskonen JT,Stuart DI

    更新日期:2019-03-29 00:00:00

  • Sustainable production of highly conductive multilayer graphene ink for wireless connectivity and IoT applications.

    abstract::Printed electronics offer a breakthrough in the penetration of information technology into everyday life. The possibility of printing electronic circuits will further promote the spread of the Internet of Things applications. Inks based on graphene have a chance to dominate this technology, as they potentially can be ...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/s41467-018-07632-w

    authors: Pan K,Fan Y,Leng T,Li J,Xin Z,Zhang J,Hao L,Gallop J,Novoselov KS,Hu Z

    更新日期:2018-12-05 00:00:00

  • Gfi1b regulates the level of Wnt/β-catenin signaling in hematopoietic stem cells and megakaryocytes.

    abstract::Gfi1b is a transcriptional repressor expressed in hematopoietic stem cells (HSCs) and megakaryocytes (MKs). Gfi1b deficiency leads to expansion of both cell types and abrogates the ability of MKs to respond to integrin. Here we show that Gfi1b forms complexes with β-catenin, its co-factors Pontin52, CHD8, TLE3 and CtB...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/s41467-019-09273-z

    authors: Shooshtarizadeh P,Helness A,Vadnais C,Brouwer N,Beauchemin H,Chen R,Bagci H,Staal FJT,Coté JF,Möröy T

    更新日期:2019-03-20 00:00:00

  • Olfactory bulb acetylcholine release dishabituates odor responses and reinstates odor investigation.

    abstract::Habituation and dishabituation modulate the neural resources and behavioral significance allocated to incoming stimuli across the sensory systems. We characterize these processes in the mouse olfactory bulb (OB) and uncover a role for OB acetylcholine (ACh) in physiological and behavioral olfactory dishabituation. We ...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/s41467-018-04371-w

    authors: Ogg MC,Ross JM,Bendahmane M,Fletcher ML

    更新日期:2018-05-14 00:00:00