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Implications for health and disease in the genetic signature of the Ashkenazi Jewish population
Saurav Guha, Jeffrey A Rosenfeld, Anil K Malhotra, Annette T Lee, Peter K Gregersen, John M Kane, Itsik Pe'er, Ariel Darvasi, Todd Lencz Genome Biology 2012, 13:R2 (25 January 2012)
Abstract | Provisional PDF
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Editor’s summary
A population-specific genetic signature, derived from a large genotyping study, helps explain why some diseases are overrepresented in the Ashkenazi population
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Detection of low prevalence somatic mutations in solid tumors with ultra-deep targeted sequencing
Olivier Harismendy, Richard B Schwab, Lei Bao, Jeff Olson, Sophie Rozenzhak, Steve K Kotsopoulos, Stephanie Pond, Brian Crain, Mark S Chee, Karen Messer, Darren R Link, Kelly A Frazer Genome Biology 2011, 12:R124 (20 December 2011)
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Editor’s summary
An ultra-deep targeted sequencing assay detects low prevalence mutations in Illumina MiSeq and GAII clinical datasets generated from heterogeneous tumor samples
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DNA-protein interactions in high definition
Eric M Mendenhall, Bradley E Bernstein Genome Biology 2012, 13:139 (27 January 2012)
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Editor’s summary
Mendenhall and Bernstein highlight ChIP-exo, which is an elegant, genome-wide approach to define the precise DNA sequences bound by transcription factors
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4.
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Genetic adaptation to high altitude in the Ethiopian highlands
Laura B Scheinfeldt, Sameer Soi, Simon Thompson, Alessia Ranciaro, Dawit Wolde Meskel, William Beggs, Charla Lambert, Joseph P Jarvis, Dawit Abate, Gurja Belay, Sarah A Tishkoff Genome Biology 2012, 13:R1 (20 January 2012)
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Editor’s summary
The genetics of hypoxia selection in an Ethiopian high-altitude population are distinct from Andean and Tibetan genotypes, suggestive of convergent evolution
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5.
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Dissecting the regulatory architecture of gene expression QTLs
Daniel J Gaffney, Jean-Baptiste Veyrieras, Jacob F Degner, Pique-Regi Roger, Athma A Pai, Gregory E Crawford, Matthew Stephens, Yoav Gilad, Jonathan K Pritchard Genome Biology 2012, 13:R7 (31 January 2012)
Abstract | Provisional PDF
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Editor’s summary
An analysis of eQTLs located in regulatory elements in the human genome
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6.
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Differential gene-expression patterns in genital fibroblasts of normal males and 46,XY females with androgen insensitivity syndrome: evidence for early programming involving the androgen receptor
Paul-Martin Holterhus, Olaf Hiort, Janos Demeter, Patrick O Brown, James D Brooks Genome Biology 2003, 4:R37 (15 May 2003)
Abstract | Full text | PDF | PubMed | Cited on BioMed Central
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Editor’s summary
Most individuals with androgen insensitivity syndrome (AIS) carry germline mutations of the androgen receptor (AR) that interfere with or ablate its function. As genital fibroblasts retain expression of the AR in vitro, genital skin fibroblasts from normal males and 46,XY females with complete AIS due to known AR mutations were analysed using microarrays to gain insights into the role of the AR in human genital differentiation.
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7.
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The cyclooxygenases
NV Chandrasekharan, Daniel L Simmons Genome Biology 2004, 5:241 (27 August 2004)
Abstract | Full text | PDF | PubMed | Cited on BioMed Central
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Editor’s summary
Cyclooxygenases (COXs) catalyze the rate-limiting step in the production of prostaglandins, bioactive compounds involved in processes such as fever and sensitivity to pain, and are the target of aspirin-like drugs. In mammals, the two COX genes encode a constitutive isoenzyme (COX-1) and an inducible isoenzyme (COX-2).
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8.
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Social regulation of gene expression in human leukocytes
Steve W Cole, Louise C Hawkley, Jesusa M Arevalo, Caroline Y Sung, Robert M Rose, John T Cacioppo Genome Biology 2007, 8:R189 (13 September 2007)
Abstract | Full text | PDF | PubMed | Cited on BioMed Central
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Editor’s summary
Analysis of differentially expressed in circulating leukocytes from people who chronically experienced high versus low levels of subjective social isolation (loneliness) revealed over-expression of some anti-inflammatory genes and under-expression of some pro-inflammatory genes.
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9.
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A Faustian bargain
Gregory A Petsko Genome Biology 2010, 11:138 (31 October 2010)
Full text | PDF | PubMed | Cited on BioMed Central |
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Editor’s summary
An open letter to George M Philip, President of the State University of New York At Albany.
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10.
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Experimental annotation of the human pathogen Candida albicans coding and noncoding transcribed regions using high-resolution tiling arrays
Adnane Sellam, Hervé Hogues, Christopher Askew, Faiza Tebbji, Marco van het Hoog, Hugo Lavoie, Carol A Kumamoto, Malcolm Whiteway, André Nantel Genome Biology 2010, 11:R71 (9 July 2010)
Abstract | Full text | PDF | PubMed | Cited on BioMed Central
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Editor’s summary
The Candida albicans transcriptional landscape reveals antisense transcription, novel open reading frames and non-coding RNAs, whose expression is correlated with RNA polymerase occupancy.
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11.
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Chromothripsis is a common mechanism driving genomic rearrangements in primary and metastatic colorectal cancer
Wigard P Kloosterman, Marlous Hoogstraat, Oscar Paling, Masoumeh Tavakoli-Yaraki, Ivo Renkens, Joost S Vermaat, Markus J van Roosmalen, Stef van Lieshout, Isaac J Nijman, Wijnand Roessingh, Ruben van 't Slot, José van de Belt, Victor Guryev, Marco Koudijs, Emile Voest, Edwin Cuppen Genome Biology 2011, 12:R103 (19 October 2011)
Abstract | Full text | PDF | PubMed
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Editor’s summary
Chromothripsis is found to be a common mechanism driving structural rearrangement in primary colorectal cancer and metastases
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12.
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Systematic mapping of two component response regulators to gene targets in a model sulfate reducing bacterium
Lara Rajeev, Eric G Luning, Paramvir S Dehal, Morgan N Price, Adam P Arkin, Aindrila Mukhopadhyay Genome Biology 2011, 12:R99 (12 October 2011)
Abstract | Full text | PDF | PubMed
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Editor’s summary
All response regulators in the genome of Desulfovibrius vulgaris are identified, as are all their target genes
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13.
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Evaluation of genomic high-throughput sequencing data generated on Illumina HiSeq and Genome Analyzer systems
André E Minoche, Juliane C Dohm, Heinz Himmelbauer Genome Biology 2011, 12:R112 (8 November 2011)
Abstract | Full text | PDF | PubMed
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Editor’s summary
Error rates are compared in data from Illumina's HiSeq and GAIIx systems
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14.
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The real cost of sequencing: higher than you think!
Andrea Sboner, Xinmeng Mu, Dov Greenbaum, Raymond K Auerbach, Mark B Gerstein Genome Biology 2011, 12:125 (25 August 2011)
Abstract | Full text | PDF | PubMed
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Editor’s summary
The sharp decrease in the cost of 'data generation' has not been matched by a comparable decrease in the cost of the computational infrastructure required to mine the data
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15.
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PARalyzer: definition of RNA binding sites from PAR-CLIP short-read sequence data
David L Corcoran, Stoyan Georgiev, Neelanjan Mukherjee, Eva Gottwein, Rebecca L Skalsky, Jack D Keene, Uwe Ohler Genome Biology 2011, 12:R79 (18 August 2011)
Abstract | Full text | PDF | PubMed
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Editor’s summary
A method for identifying RNA binding sites and miRNA target motifs from PAR-CLIP data
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16.
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What is complex about complex disorders?
Kevin J Mitchell Genome Biology 2012, 13:237 (23 January 2012)
Abstract | Full text | PDF | PubMed
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Editor’s summary
Complex disorders such as diabetes and schizophrenia are really groups of many distinct genetic disorders caused by rare, recent deleterious mutations
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17.
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Transcriptional enhancers in development and disease
Noboru Sakabe, Daniel Savic, Marcelo A Nobrega Genome Biology 2012, 13:238 (23 January 2012)
Abstract | Full text | PDF | PubMed
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Editor’s summary
Distal enhancers are important in development and disease, and genome-wide analyses are now giving greater insights into their function
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18.
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Sequencing three crocodilian genomes to illuminate the evolution of archosaurs and amniotes
John A St John, Edward L Braun, Sally R Isberg, Lee G Miles, Amanda Y Chong, Jaime Gongora, Pauline Dalzell, Christopher Moran, Bertrand Bed'Hom, Arkhat Abzhanov, Shane C Burgess, Amanda M Cooksey, Todd A Castoe, Nicholas G Crawford, Llewellyn D Densmore, Jennifer C Drew, Scott V Edwards, Brant C Faircloth, Matthew K Fujita, Matthew J Greenwold, Federico G Hoffmann, Jonathan M Howard, Taisen Iguchi, Daniel E Janes, Shahid Khan, Satomi Kohno, AP Jason de Koning, Stacey L Lance, Fiona M McCarthy, John E McCormack Genome Biology 2012, 13:415 (31 January 2012)
Abstract | Full text | PDF | PubMed
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Editor’s summary
An Open Letter describing the project to sequence the genomes of the saltwater crocodile, the American alligator and the Indian gharial
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19.
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A genome triplication associated with early diversification of the core eudicots
Yuannian Jiao, Jim Leebens-Mack, Saravanaraj Ayyampalayam, John E. Bowers, Michael R McKain, Joel McNeal, Megan Rolf, Daniel R Ruzicka, Eric Wafula, Norman J Wickett, Xiaolei Wu, Yong Zhang, Jun Wang, Yeting Zhang, Eric J Carpenter, Michael K Deyholos, Toni M Kutchan, Andre S Chanderbali, Pamela S Soltis, Dennis W Stevenson, Richard McCombie, Chris J Pires, Gane KA-SHU Wong, Douglas E Soltis, Claude W dePamphilis Genome Biology 2012, 13:R3 (26 January 2012)
Abstract | Provisional PDF
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Editor’s summary
An investigation of when the gamma polyploidization event occurred in relation to speciation events in angiosperm history
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20.
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SpliceGrapher: Detecting patterns of alternative splicing from RNA-seq data in the context of gene models and EST data
Mark F Rogers, Julie Thomas, Anireddy SN Reddy, Asa Ben-Hur Genome Biology 2012, 13:R4 (31 January 2012)
Abstract | Provisional PDF
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Editor’s summary
A tool that uses a priori information to optimize alternative splicing prediction from RNA-seq data
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21.
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How epigenetics affects twins
Charles Q Choi Genome Biology 2004, 5:spotlight-20050708-02 (8 July 2005)
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In genetically identical siblings, DNA methylation and histone acetylation correlate with age and lifestyle
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