• Article |

    Artifacts caused by whole-genome amplification bias are a recurrent challenge in single-cell sequencing analysis. Here, the authors develop statistical models and demonstrate an efficient strategy for controlling amplification errors by a joint analysis of single cell genomes.

    • Cheng-Zhong Zhang
    • , Viktor A. Adalsteinsson
    •  & J. Christopher Love
  • Article
    | Open Access

    Pulmonary hypertension and congestive right heart failure afflict some cattle living at high altitude in an autosomal dominant pattern, yet no responsible genes have been identified. Here Newman et al.use whole-exome sequencing to identify variants in the hypoxia inducible factor gene, EPAS1.

    • John H. Newman
    • , Timothy N. Holt
    •  & Rizwan Hamid
  • Article |

    Characterizing mammalian gene expression regulation by enhancer elements is complicated by the size and complexity of the genome. Here Vanhille et al.demonstrate CapStarr-Seq, a novel high-throughput method for assessing potential enhancers and deciphering the mechanisms regulating transcription

    • Laurent Vanhille
    • , Aurélien Griffon
    •  & Salvatore Spicuglia
  • Article
    | Open Access

    Long-term potentiation (LTP) is a form of synaptic plasticity that results in enhanced synaptic strength. Here, the authors demonstrate that miR-26a and miR-384-5p affect the maintenance, but not induction, of LTP as well as spine enlargement by regulating the expression of RSK3.

    • Qin-Hua Gu
    • , Danni Yu
    •  & Zheng Li
  • Article
    | Open Access

    Diagnosis of pancreatic ductal adenocarcinoma (PDA) has poor long-term survival rates with limited therapy options. Here Witkiewicz et al.use microdissection and whole-exome sequencing to identify novel recurrent PDA mutations, highlighting the genetic diversity of this aggressive cancer.

    • Agnieszka K. Witkiewicz
    • , Elizabeth A. McMillan
    •  & Erik S. Knudsen
  • Article
    | Open Access

    Papillary renal cell carcinoma (pRCC) is a subtype of kidney cancer characterized by highly variable clinical behaviour. Here the authors sequence either the genomes or exomes of 31 pRCCs and identify several genes in sub-clones and large copy number variants in major clones that may be important drivers of pRCC.

    • Michal Kovac
    • , Carolina Navas
    •  & Ian Tomlinson
  • Article
    | Open Access

    Toxocara canis is a zoonotic parasite of major worldwide socioeconomic importance. Here, the authors sequence the genome and transcriptome of T. canis, and highlight potential mechanisms involved in development and host–parasite interactions that could support the pursuit of new drug interventions.

    • Xing-Quan Zhu
    • , Pasi K. Korhonen
    •  & Robin B. Gasser
  • Article
    | Open Access

    One of the biggest bottlenecks in large-scale DNA synthesis is the retrieval of target clonal DNA from high-density sequencing platforms. Here, the authors present a method called ‘Sniper Cloning’ that allows for precise mapping of target clone features and rapid retrieval of targets for full utilization of DNA clones.

    • Howon Lee
    • , Hyoki Kim
    •  & Sunghoon Kwon
  • Article |

    Triple-negative breast cancers (TNBCs) are a heterogeneous group of cancers with varying prognoses. Here, the authors carry out whole-genome methylation capture sequencing from TNBC samples and matched normal samples, and identify differentially methylated regions that define a potentially novel TNBC signature.

    • Clare Stirzaker
    • , Elena Zotenko
    •  & Susan J. Clark
  • Article
    | Open Access

    Next-generation sequencing technologies vary in performance, which is often measured by metrics such as sequencing speed, accuracy and read length. Here, the authors present a new sequencing by synthesis method that monitors polymerase binding to DNA, and suggest that this method has the potential to generate longer and faster reads.

    • Michael John Robert Previte
    • , Chunhong Zhou
    •  & Molly Min He
  • Article |

    Strand-specific RNA-seq (ssRNA-seq) data often lack information on 5′ and 3′ ends of transcripts. Here the authors present a novel method for ssRNA-seq that enables the simultaneous profiling of gene expression, TSSs and polyadenylation sites at near-base resolution with a single library.

    • Saurabh Agarwal
    • , Todd S. Macfarlan
    •  & Shigeki Iwase
  • Article
    | Open Access

    Type 2 diabetes (T2D) is a highly heterogeneous disease with a strong genetic component. Here the authors examine genome-wide methylation patterns in T2D-discordant, T2D-concordant and healthy concordant monozygotic twin pairs, and identify DNA methylation signals that may represent new biomarkers or drug targets for T2D.

    • Wei Yuan
    • , Yudong Xia
    •  & Tim D. Spector
  • Article
    | Open Access

    King Richard III was a controversial English King whose remains are presumably deposited in Grey Friars in Leicester. Here the authors sequence the mitochondrial genome and Y-chromosome DNA of the skeletal remains and living relatives of Richard III and confirm that the remains belong to King Richard III.

    • Turi E. King
    • , Gloria Gonzalez Fortes
    •  & Kevin Schürer
  • Article
    | Open Access

    The microbial RNA-guided CRISPR/Cas9 system has robust genome-editing activities, but the off-target effects of the Cas9 nuclease have only recently begun to be analysed. Here the authors provide evidence for high specificity of the Cas9 nuclease on targeting of the Tafazzin gene in human-induced pluripotent stem cells and demonstrate the impact of single-nucleotide variations of the human genome on Cas9 specificity.

    • Luhan Yang
    • , Dennis Grishin
    •  & George Church
  • Article
    | Open Access

    Plasmodium falciparum, known to cause malaria in humans, evolved from parasites of African Great Apes. Here, the authors compare the genome of the human parasite, P. falciparum, with those of two related chimpanzee parasites, P. reichenowi and P. gaboni, and provide insight into the genetic basis of P. falciparumadaptation to human hosts.

    • Thomas D. Otto
    • , Julian C. Rayner
    •  & Matthew Berriman
  • Article
    | Open Access

    Common methods to detect adenosine-to-inosine RNA editing sites rely on mapping short RNA reads to the genome while allowing only a limited number of mismatches. Here, Porath et al. present a novel RNA-seq based approach to identify hyper-edited reads that significantly expands the RNA editome.

    • Hagit T. Porath
    • , Shai Carmi
    •  & Erez Y. Levanon
  • Article |

    Although psoriasis is a chronic disorder affecting approximately 2% of the population, little is known about the underlying genetic architecture. Here, the authors carry out exome sequencing in a large Han Chinese cohort of psoriasis patients and healthy controls, and identify three new genes that may increase risk of developing the disease.

    • Yujun Sheng
    • , Xin Jin
    •  & Xuejun Zhang
  • Article |

    Determining the link between gene polymorphisms and phenotypic traits is the subject of intense research in agricultural plant science. In this study, Fu et al. conduct RNA sequencing in maize kernels to determine gene polymorphisms, which may aid future research aiming to improve the nutritional value of maize.

    • Junjie Fu
    • , Yanbing Cheng
    •  & Guoying Wang
  • Article |

    Semiconductor-based, non-optical DNA sequencing technologies such as Ion Torrent sequencing offer speed and cost advantages compared with alternative techniques. Cheng et al. demonstrate a protocol allowing the use of Ion Torrent technology to sequence DNA from chromatin immunoprecipitation experiments.

    • Christine S. Cheng
    • , Kunal Rai
    •  & Ido Amit
  • Article |

    The complexity and dynamic range of mammalian proteomes has stymied comprehensive protein quantification for the past twenty years. Zhou et al. develop DEEP SEQ mass spectrometry and use it to quantify a murine stem cell proteome to a depth equivalent to RNA-seq-based ribosome profiling.

    • Feng Zhou
    • , Yu Lu
    •  & Jarrod A. Marto
  • Article
    | Open Access

    The wild rice species can be used as germplasm resources for this crop’s genetic improvement. Here Chen and colleagues report the de novo sequencing of the O. brachyanthagenome, and identify the origin of genome size variation, the role of gene movement and its implications on heterochromatin evolution in the rice genome.

    • Jinfeng Chen
    • , Quanfei Huang
    •  & Mingsheng Chen
  • Article
    | Open Access

    The Prunus mume was domesticated in China over 3,000 years ago and is an important ornamental plant and fruit. Here Qixiang Zhang et al.obtain the first assembly of its genome with a combination of next-generation sequencing, whole-genome mapping and restriction-site-associated DNA.

    • Qixiang Zhang
    • , Wenbin Chen
    •  & Jun Wang
  • Article |

    The amount of data supplied by next-generation sequencing technologies presents a challenge for traditional algorithms to detect single-nucleotide polymorphisms. Xu et al.develop an efficient detection program and demonstrate its utility by identifying polymorphisms in cancer genomes and human populations.

    • Feng Xu
    • , Weixin Wang
    •  & Junwen Wang
  • Article
    | Open Access

    Camels are essential means of transport in deserts, but we know little about the biology of these extraordinary mammals. This study reports the genome sequences of the wild and domestic bactrian camel, offering a glimpse into the camels’ genetic adaptation to harsh environments.

    • Jirimutu
    • , Zhen Wang
    •  & He Meng
  • Article
    | Open Access

    Ganoderma lucidumis a macrofungus in traditional Chinese medicine known to produce different bioactive compounds. In this study, the genome ofG. lucidumis sequenced, making this organism a potential model system for future studies of secondary metabolic pathways and their regulation in medicinal fungi.

    • Shilin Chen
    • , Jiang Xu
    •  & Chao Sun
  • Article |

    Modern female horses are genetically diverse but male horses are relatively homogenous. Lippoldet al. sequence the Y chromosome of nine ancient horses and detect diversity in the ancestral paternal lineage, demonstrating ancient Y-chromosomal DNA sequencing can provide insights into evolution.

    • Sebastian Lippold
    • , Michael Knapp
    •  & Michael Hofreiter
  • Article
    | Open Access

    ADAR enzymes edit double-stranded RNA, converting adenosines to inosines, and are essential for neuronal function. Eggingtonet al. quantify edit sites in RNA using a Sanger sequencing protocol and use the resulting data to develop algorithms to predict RNA edit sites.

    • Julie M. Eggington
    • , Tom Greene
    •  & Brenda L. Bass