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  • Comparative analysis of RNA sequencing methods for degraded or low-input samples

     At 2014-03-09 08:36:46 AM  |   78

    RNA-seq is an effective method for studying the transcriptome, but it can be difficult to apply to scarce or degraded RNA from fixed clinical samples, rare cell populations or cadavers. Recent studies have proposed several methods for RNA-seq of low-quality and/or low-quantity samples, but the relative merits of these methods have not been systematically analyzed.  Read more
  • Highly Multiplexed Subcellular RNA Sequencing in Situ

     At 2014-02-27 11:37:08 PM  |   95

    Scientists can now take snapshots of where and how thousands of genes are expressed in intact tissue samples, ranging from a slice of a human brain to the embryo of a fly. Read more
  • Focus on pain

     At 2014-03-05 07:27:23 PM  |   95

    Pain can be defined simply as the subjective experience of harm in a part of one's body. In reality, however, there are multiple forms of pain, which involve a variety of distinct biological processes. Exposure to extreme heat, cold or pressure can be noxious, triggering nociceptive pain. Inflammatory pain, involving the release of cytokines and the infiltration of immune cells, also occurs subsequent to injury, but can be triggered independently by bacterial infections. Although pain has an important physiological role in preserving the integrity of the body, pathological pain also exists. Nerve damage, in surgery patients for instance, sometimes leads to chronic pain conditions that can last years or even decades. Read more
  • Palmitoylation of δ-catenin by DHHC5 mediates activity-induced synapse plasticity

     At 2014-02-25 07:58:12 PM  |   114

    Synaptic cadherin adhesion complexes are known to be key regulators of synapse plasticity. However, the molecular mechanisms that coordinate activity-induced modifications in cadherin localization and adhesion and the subsequent changes in synapse morphology and efficacy remain unknown. We demonstrate that the intracellular cadherin binding protein δ-catenin is transiently palmitoylated by DHHC5 after enhanced synaptic activity and that palmitoylation increases δ-catenin–cadherin interactions at synapses.  Read more
  • Imagined gait modulates neuronal network dynamics in the human pedunculopontine nucleus

     At 2014-02-24 04:33:06 PM  |   80

    The pedunculopontine nucleus (PPN) is a part of the mesencephalic locomotor region and is thought to be important for the initiation and maintenance of gait. Lesions of the PPN induce gait deficits, and the PPN has therefore emerged as a target for deep brain stimulation for the control of gait and postural disability.  Read more
  • A neural mechanism underlying failure of optimal choice with multiple alternatives

     At 2014-02-24 04:30:39 PM  |   1

    Despite widespread interest in neural mechanisms of decision-making, most investigations focus on decisions between just two options. Here we adapt a biophysically plausible model of decision-making to predict how a key decision variable, the value difference signal—encoding how much better one choice is than another—changes with the value of a third, but unavailable, alternative.  Read more
  • Use of whole-genome sequencing to diagnose a cryptic fusion oncogene.

     At 2014-03-28 02:38:21 AM  |   38

    Whole-genome sequencing is becoming increasingly available for research purposes, but it has not yet been routinely used for clinical diagnosis. Read more
  • The genomic complexity of primary human prostate cancer

     At 2014-02-26 09:14:25 PM  |   19

    Prostate cancer is the second most common cause of male cancer deaths in the United States. However, the full range of prostate cancer genomic alterations is incompletely characterized. Here we present the complete sequence of seven primary human prostate cancers and their paired normal counterparts. Several tumours contained complex chains of balanced (that is, ‘copy-neutral’) rearrangements that occurred within or adjacent to known cancer genes. Rearrangement breakpoints were enriched near open chromatin, androgen receptor and ERG DNA binding sites in the setting of the ETS gene fusion TMPRSS2–ERG, but inversely correlated with these regions in tumours lacking ETS fusions.  Read more
  • Initial genome sequencing and analysis of multiple myeloma

     At 2014-02-25 08:01:24 PM  |   41

    Multiple myeloma is an incurable malignancy of plasma cells, and its pathogenesis is poorly understood. Here we report the massively parallel sequencing of 38 tumour genomes and their comparison to matched normal DNAs. Several new and unexpected oncogenic mechanisms were suggested by the pattern of somatic mutation across the data set. Read more
  • CREBBP mutations in relapsed acute lymphoblastic leukaemia

     At 2014-02-22 01:19:11 AM  |   24

    Relapsed acute lymphoblastic leukaemia (ALL) is a leading cause of death due to disease in young people, but the biological determinants of treatment failure remain poorly understood. Recent genome-wide profiling of structural DNA alterations in ALL have identified multiple submicroscopic somatic mutations targeting key cellular pathways, and have demonstrated substantial evolution in genetic alterations from diagnosis to relapse. However, DNA sequence mutations in ALL have not been analysed in detail. To identify novel mutations in relapsed ALL, we resequenced 300 genes in matched diagnosis and relapse samples from 23 patients with ALL.  Read more
  • Ragout—a reference-assisted assembly tool for bacterial genomes

     At 2014-06-16 01:38:04 PM  |   76

    Bacterial genomes are simpler than mammalian ones, and yet assembling the former from the data currently generated by high-throughput short-read sequencing machines still results in hundreds of contigs. To improve assembly quality, recent studies have utilized longer Pacific Biosciences (PacBio) reads or jumping libraries to connect contigs into larger scaffolds or help assemblers resolve ambiguities in repetitive regions of the genome. Read more
  • An environmental bacterial taxon with a large and distinct metabolic repertoire

     At 2014-03-06 11:04:16 AM  |   57

    Cultivated bacteria such as actinomycetes are a highly useful source of biomedically important natural products. However, such ‘talented’ producers represent only a minute fraction of the entire, mostly uncultivated, prokaryotic diversity. The uncultured majority is generally perceived as a large, untapped resource of new drug candidates, but so far it is unknown whether taxa containing talented bacteria indeed exist. Read more
  • Biogenesis and functions of bacterial S-layers

     At 2014-03-01 08:20:03 PM  |   76

    The outer surface of many archaea and bacteria is coated with a proteinaceous surface layer (known as an S-layer), which is formed by the self-assembly of monomeric proteins into a regularly spaced, two-dimensional array. Bacteria possess dedicated pathways for the secretion and anchoring of the S-layer to the cell wall, and some Gram-positive species have large S-layer-associated gene families. Read more
  • Metatranscriptomics reveals unique microbial small RNAs in the ocean's water column

     At 2014-02-22 01:35:00 AM  |   58

    Microbial gene expression in the environment has recently been assessed via pyrosequencing of total RNA extracted directly from natural microbial assemblages. Several such 'metatranscriptomic' studies have reported that many complementary DNA sequences shared no significant homology with known peptide sequences, and so might represent transcripts from uncharacterized proteins.  Read more
  • Genomic Medicine 2015 - From 20 - 23 July 2015, HoChiMinh City, Vietnam

     About 14 hours ago  |   57

    Genomic Medicine 2015! 20 - 23 July 2015, HoChiMinh City Genomic Medicine Conference is devoted to the latest advances in the use of omics data in medical practice. Read more
  • Networks Reveal the Connections of Disease

     At 2015-02-24 01:32:49 PM  |   1

    Enormous databases of medical records have begun to reveal the hidden biological missteps that make us sick. Read more
  • Genetic and functional properties of uncultivated MCG archaea assessed by metagenome and gene expression analyses

     At 2014-03-18 02:05:18 AM  |   97

    The Miscellaneous Crenarchaeota group (MCG) Archaea is one of the predominant archaeal groups in anoxic environments and may have significant roles in the global biogeochemical cycles. However, no isolate of MCG has been cultivated or characterized to date. In this study, we investigated the genetic organization, ecophysiological properties and evolutionary relationships of MCG archaea with other archaeal members using metagenome information and the result of gene expression experiments. Read more
  • Brain initiatives galore, smiles aplenty

     At 2014-02-15 11:52:43 AM  |   38

    The brain is hot. Despite dismay about the recent 16-day US government shutdown, the impact of automatic budget cuts–the sequester–taking effect in light of federal budget disagreements in Washington, and the general economic malaise, there is palpable excitement. New large-scale initiatives are getting underway around the world to develop technologies to empower neuroscientists. Read more
  • Genome yields insights into golden eagle vision, smell

     At 2014-06-08 01:19:29 PM  |   65

    Purdue and West Virginia University researchers are the first to sequence the genome of the golden eagle, providing a bird's-eye view of eagle features that could lead to more effective conservation strategies. Read more
  • Adjusting for technical noise in single-cell RNA-seq experiments

     At 2013-09-29 08:55:07 PM  |   266

    Punchline: use spike-ins for every cell in your single-cell experiments to adjust for relative RNA levels per cell. Single-cell RNA-seq can yield valuable insights about the variability within a population of seemingly homogeneous cells. We developed a quantitative statistical method to distinguish true biological variability from the high levels of technical noise in single-cell experiments. Our approach quantifies the statistical significance of observed cell-to-cell variability in expression strength on a gene-by-gene basis. We validate our approach using two independent data sets from Arabidopsis thaliana and Mus musculus. Read more
  • Single cell transcriptomes

     At 2013-09-26 12:15:09 AM  |   156

    Single-cell transcriptomics reveals bimodality in expression and splicing in immune cells Read more
  • From Indexing Data Structures to de Bruijn Graphs

     At 2014-10-31 03:03:42 PM  |   44

    New technologies have tremendously increased sequencing throughput compared to traditional techniques, thereby complicating DNA assembly. Read more
  • De novo genome assembly: what every biologist should know

     At 2014-02-27 07:24:38 AM  |   39

    Asked how mature the field of genome assembly is, Ian Korf at the University of California, Davis, compares it to a teenager with great capabilities. “It's got bold assertions about what it can do, but at the same time it's making embarrassing mistakes,” he says. Perhaps the biggest barrier to maturity is that there are few ways to distinguish true insight from foolish gaffe. When a species' genome is newly assembled, no one knows what's real, what's missing, and what's experimental artifact. Read more
  • C-Sibelia: an easy-to-use and highly accurate tool for bacterial genome comparison

     At 2013-11-25 09:58:11 AM  |   274

    We present Comparative Sibelia software (C-Sibelia) for the comparison of two bacterial genomes in the form of complete sequences or draft assemblies. C-Sibelia is able to compare genomes in the presence of rearrangements and duplications. C-Sibelia takes as input two FASTA files (the assembly and reference files; if the reference genome is not available, it can be substituted by another draft assembly) and produces: (1) a VCF file containing all identified single nucleotide variations (SNVs) and indels; (2) annotation of these variants by SnpEff; (3) an XMFA1 file containing alignment information. The web-based version also produces a circular diagram visualizing the rearrangement of synteny blocks in two genomes. Read more
  • SPAdes: A New Genome Assembly Algorithm and Its Applications to Single-Cell Sequencing

     At 2013-09-26 12:31:09 AM  |   248

    Assembly of single-cell data is challenging because of highly non-uniform read coverage as well as elevated levels of sequencing errors and chimeric reads. We describe SPAdes, a new assembler for both single-cell and standard (multicell) assembly. Read more
  • Initial sequencing and comparative analysis of the mouse genome

     At 2014-03-16 02:40:49 AM  |   19

    The sequence of the mouse genome is a key informational tool for understanding the contents of the human genome and a key experimental tool for biomedical research. Here, we report the results of an international collaboration to produce a high-quality draft sequence of the mouse genome.  Read more
  • Microarray-based Comparative Genomic Hybridization (aCGH)

     At 2014-02-25 08:09:11 PM  |   60

    Many human genetic disorders result from unbalanced chromosomal abnormalities, in which there is net gain or loss of genetic material. Traditionally, cytologists have detected such abnormalities by generating a karyotype of a person's chromosomes and analyzing the banding patterns therein. Indeed, since its development in the 1970s, cytogenetic analysis of banding patterns has been the primary tool for the clinical assessment of patients with a variety of congenital anomalies. Under ideal conditions, aberrations as small as approximately 5 megabases (Mb) can be detected with banding analysis; such chromosome rearrangements are termed "microscopic." Read more
  • The Pan-Cancer initiative compares the first 12 tumor types profiled by TCGA.

     At 2013-09-28 04:26:06 AM  |   140

    The Cancer Genome Atlas (TCGA) Research Network has profiled and analyzed large numbers of human tumors to discover molecular aberrations at the DNA, RNA, protein and epigenetic levels. The resulting rich data provide a major opportunity to develop an integrated picture of commonalities, differences and emergent themes across tumor lineages.  Read more
  • THetA: Inferring intra-tumor heterogeneity from high- throughput DNA sequencing data

     At 2013-09-26 12:27:11 AM  |   252

    THetA (Tumor Heterogeneity Analysis), an algorithm that infers the most likely collection of genomes and their proportions in a sample, for the case where copy number aberrations distinguish subpopulations. Read more