arthegall + genomics   221

Need, Shashi et al. "Clinical application of exome sequencing in undiagnosed genetic conditions," Journal of Medical Genetics (2012)
"This study provides evidence that next-generation sequencing can have high success rates in a clinical setting, but also highlights key challenges. It further suggests that the presentation of known Mendelian conditions may be considerably broader than currently recognised." -- Looks like the authors are from Duke Medical School...
research-article  sequencing  exomes  clinical-genetics  biology  genetics  genomics  mendelian-disease 
11 days ago by arthegall
Stahl etl al. "Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis," Nature Genetics (2012)
"Our results are consistent with simulated genetic models in which hundreds of associated loci harbor common causal variants and a smaller number of loci harbor multiple rare causal variants. These analyses suggest that GWAS will continue to be highly productive for the discovery of additional susceptibility loci for common diseases."
gwas  genetic-testing  arthritis  genetics  genomics  research-article  nature-genetics 
13 days ago by arthegall
Fan, Li, "Test driving genome assemblers" (Nature Biotechnology)
More "comparison of genome assemblers" stuff. Related to the "comparison of genome annotations" linked to earlier.
genomics  assembly  sequence-analysis  review-article  nature-biotechnology 
17 days ago by arthegall
Richardson, Watson, "The automatic annotation of bacterial genomes" (Briefings in Bioinformatics)
The discussion of errors in annotation being propagated by basing one annotation on an earlier, erroneous or hypothetical annotation is excellent.
annotation  bacteria  genomics  bioinformatics  review-article 
18 days ago by arthegall
ArrayTrack™—a microarray database, data analysis & interpretation tool
Why does the FDA have its own microarray management platform? And what's with the (™) after the name? (A quick search at the USPTO website, [ http://tess2.uspto.gov/bin/gate.exe?f=login&p_lang=english&p_d=trmk ], reveals nothing by that name...)
fda  government  microarrays  data  database  web  genomics  wtf 
4 weeks ago by arthegall
Translation: The twenty-first amino acid : Article : Nature
Overview of seleno-cysteines. (Where can I find comprehensive SECIS element predictions in human?)
genomics  genetics  seleno-cysteine  review  biology 
4 weeks ago by arthegall
MINiML
"MINiML (MIAME Notation in Markup Language, pronounced 'minimal') is a data exchange format optimized for microarray gene expression data, as well as many other types of high-throughput molecular abundance data."
xml  file-format  ncbi  geo  work  bioinformatics  data  genomics 
4 weeks ago by arthegall
Schadt, Woo, and Hao, "Bayesian method to predict individual SNP genotypes from gene expression data"
"We show that, not only can genotypic barcodes be derived from individual gene expression data sets that can in turn be used to identify the genotype vector corresponding to the given individual, but such barcodes also have the potential to reliably identify first-degree relatives and even reconstruct nuclear pedigrees directly from gene expression data." -- I think that the logical possibility of doing this is pretty obvious to anyone who's thought this data through (and there are a *lot* more examples of similar kinds of re-identification possible out there), but it's still awesome to see it actually carried out and demonstrated on real data.
genomics  eric-schadt  privacy  genotype  research-article  bioinformatics  data 
6 weeks ago by arthegall
Genome Medicine | Full text | Locus Reference Genomic sequences: an improved basis for describing human DNA variants.
One of the original papers on LRG-- check out boxes 1-3, which provide great canned use-cases for variant naming and coordinate/version handling.
genomics  bioinformatics  locus-reference-genomic  research-article  sequence-variants  data-management 
8 weeks ago by arthegall
SRA format - SEQanswers
"Guys from NCBI said me that they don't give this documentation anybody. And if you want to use the SRA format then you need to use their API." -- Eeeesh, really?? That's pretty terrible.
public-domain  science  open-access  open-source  sra  genomics  ridiculous 
february 2012 by arthegall
PLoS ONE: Transcriptomic Analysis of Toxoplasma Development Reveals Many Novel Functions and Structures Specific to Sporozoites and Oocysts
"A single felid host is capable of shedding millions of oocysts, which can survive for years in the environment, are resistant to most methods of microbial inactivation during water-treatment and are capable of producing infection in warm-blooded hosts at doses as low as 1–10 ingested oocysts." --- Shudder.
toxoplasma-gondii  feline-behavior  cat-person  plos-one  research-article  biology  genomics  awful 
february 2012 by arthegall
Zhi, Chen "Statistical Guidance for Experimental Design and Data Analysis of Mutation Detection in Rare Monogenic Mendelian Diseases by Exome Sequencing" (PLoS ONE)
"... we present a statistical modeling framework to calculate the power, the probability of identifying truly disease-causing genes, under various inheritance models and experimental conditions, providing guidance for both proper experimental design and data analysis."
sequencing  plos  research-article  genomics  mendelian-disease  statistics  to-read 
february 2012 by arthegall
[1011.5287] Distributed Storage Allocations
"By using an appropriate code, successful recovery can be achieved whenever the total amount of data accessed is at least the size of the original data object. The goal is to find an optimal storage allocation that maximizes the probability of successful recovery."
coding  arxiv  research-article  genomics  idea  storage  data 
december 2011 by arthegall
Partek Incorporated | Next Generation Sequencing Software
Commercial software for NGS analysis. Listing software here so I know what external alternatives my (internal) customers might choose to buy, instead of using what we're writing for them for free.
bioinformatics  software  commercial-software  sequencing  sequence-analysis  genomics  ngs 
june 2011 by arthegall
Hopkins, Groom, "The druggable genome" : Article : Nature Reviews Drug Discovery
(doi:10.1038/nrd892) People keep talking about this paper at work -- and Hopkins gave one of the plenaries at IDD this year. I think what this is, is just mapping a lot of the intermediate data that's useful for drug discovery down on to the "genomic coordinate system," and making it available in one location for browsing. Not sure how useful that really is; does it omit something key?
research-article  drug-discovery  genomics  science  annotation  nature  review 
may 2011 by arthegall
Assessing the significance of chromosomal aberrations in cancer: Methodology and application to glioma
The paper that develops the GISTIC scoring method for genomic variation in cancer. This is showing up more and more frequently in some of what I'm dealing with at work, so time to read up on it...
gistic  cancer  genomics  research-article  genetic-variation  genetics 
may 2011 by arthegall
Integrative Genomics Viewer
The Broad's Java-based thick-client for genome visualization.
genomics  visualization  data  broad-institute  software 
may 2011 by arthegall
GenomeQuest, Inc.
Hmm... looks a little hinky, but what do I know?
next-generation-sequencing  bioinformatics  work  data  genomics 
march 2011 by arthegall
PLoS ONE: Abundant Human DNA Contamination Identified in Non-Primate Genome Databases
If the contamination is from the researchers who collected or manipulated the samples, does that mean that we should be having them sign medical consent forms before publishing their data in public repositories? I'm only half-joking.
consent  bioinformatics  genomics  dna  contamination  plos  research-article 
february 2011 by arthegall
LRG - Home
Locus/Reference/Genomic -- this is the complement to RefSeqGene, building stable identifiers for loci independent of "gene identifier" or "genome build."
genomics  data  ncbi  locus  bioinformatics 
february 2011 by arthegall
SRA (Sequence Read Archive) : Studies : Browse : ERP000001 (Population genomics of domestic and wild yeasts)
"S. paradoxus populations are well delineated along geographic boundaries, whereas the variation among worldwide S. cerevisiae isolates shows less differentiation and is comparable to a single S. paradoxus population. Rather than one or two domestication events leading to the extant baker's yeasts, the population structure of S. cerevisiae consists of a few well-defined, geographically isolated lineages and many different mosaics of these lineages, supporting the idea that human influence provided the opportunity for cross-breeding and production of new combinations of pre-existing variations."
yeast  bioinformatics  genomics  metagenomics  sra  sequencing  project  from delicious
january 2011 by arthegall
SybilGuard
Understanding "sibyl attacks" in social networks is, I think, one part of understanding privacy and anonymity in a setting where genetic information is being passed around or compared in a centralized system.
security  privacy  genomics  genetics  personalized-medicine  research-article  sybil-attacks  social-networks 
december 2010 by arthegall
Interactive Biosoftware - Practical software for bioscientists
This looks kinda bespoke (have I mentioned how 'bespoke' is my new favorite word?) and ad hoc, but ... mentioned during the Clinical Bioinformatics Seminar two weeks ago.
bioinformatics  software  tool  mutations  genetics  variation  genomics 
december 2010 by arthegall
The Great DNA Data Deficit: Are Genes for Disease a Mirage? (Jonathan Latham and Allison Wilson)
No, no, a thousand times no. GWAS may have been a load of optimistic over-sold crap, buried under a mountain of hype ... but this is a *terrible* essay, not worth the e-paper it's not printed on.  (And holding up Nicholas Wade, of all people, as a scientific visionary...) 
craziness  genetics  medicine  gwas  genomics  begging-the-question 
december 2010 by arthegall
CCDS Report for Consensus CDS
"The Consensus CDS (CCDS) project is a collaborative effort to identify a core set of human and mouse protein coding regions that are consistently annotated and of high quality. The long term goal is to support convergence towards a standard set of gene annotations."
genomics  genetics  ncbi  cds  curation  annotation 
december 2010 by arthegall
HMS - Countway Library of Medicine - Director's Blog: Holding our breath for this diabetes risk
"It also suggests that we have insufficiently taken advantage of freely available public data to pursue relevant and timely medical research."
medicine  health  public-data  genomics  gwas  diabetes  evidence-based-medicine  zak-kohane 
november 2010 by arthegall
SBOL visual - SBOL
Visual icons for synthetic bio design. Perhaps useful in a wider context for genomic viz stuff? I asked about licensing for the actual image files, since there's no word (AFAICT) about it on the webpage. (One of the BioBrick RFCs asserts copyright to the BioBrick foundation, so there's that.)
biobricks  synthetic-biology  visualization  genomics  genetics  sbol 
november 2010 by arthegall
Omics! Omics!: Scenes from the Cancer Personalized Medicine Wilderness
"On the other hand, the regulatory environment is fraught with uncertainty and most likely this sort of organization will have to rely on wealthy customers willing to pay their own way."
n-of-one  personalized-medicine  genomics  cancer  health 
october 2010 by arthegall
OpenMicrobiome.org
"The Open Microbiome Initiative (OMI) will promote education, data integration, and potentially data acquisition efforts that advance this goal. Our vision: open datasets, tools and standards that everyone is encouraged to use and improve on to speed our understanding of the links between microbes and disease."
open  microbiome  rob-knight  genomics  data 
september 2010 by arthegall
"Independent Introduction of Two Lactase-Persistence Alleles into Human Populations Reflects Different History of Adaptation to Milk Culture"
Normally, lactase persistence ("LP") is associated with a particular SNP in an enhancer 13kb upstream of the lactase (LCT) gene. Here they show, though, that (as you might expect) there are other variants in different human subpopulations which give rise to the same phenotype. (I think this is the Broad's "ability to drink milk arose twice in human evolution" paper that I remember seeing touted on their Main St. display screens a year or two ago.)
milk  lactase  science  genomics  evolution  transcriptional-regulation  research-article 
august 2010 by arthegall
Conway and Bromage, "Succinct Data Structures for Assembling Large Genomes"
"Unfortunately, improvements in the computational feasibility for de novo assembly have not matched the improvements in the gathering of sequence data. This is for two reasons: the inherent computational complexity of the problem, and the in-practice memory requirements of tools. ... In this paper we use entropy compressed or succinct data structures to create a practical representation of the de Bruijn assembly graph, which requires at least a factor of 10 less storage than the kinds of structures used by deployed methods."
sequence-analysis  assembly  arxiv  via:vaguery  genomics  de-bruijn-graph  compression  data-structures 
august 2010 by arthegall
"SNPwatch: Uncertainty Surrounds Longevity GWAS" (The Spittoon)
The Spittoon (the blog from 23andme) does the follow-up on that fishy-smelling "here are a bunch of genetic variants associated with longevity" study that got all that press a few months ago.
23andme  spittoon  review  longevity  gwas  statistics  uncertainty  genomics  genetics  science  news 
august 2010 by arthegall
"Terabase metagenomics -- meeting and outlook" (Daily Life in an Ivory Basement)
"The meeting was focused on the promise of terabase metagenomics for a "whole earth" microbial ecology sampling projects, and we spent quite a lot of time trying to figure out the size of unknown unknowns in metagenomics. There was a great mix of people at the meeting -- both "pure" microbial ecologists who regarded computers with suspicion and computer scientists who didn't understand how DNA became protein, as well as the entire range between those two poles. We talked about questions such as: "how deep do we need to sequence in order to get a real picture of microbial diversity?" (a: very) and "how do we reconcile genomic and transcriptomic data sets?" (a: unknown) and "how can we scale up 1000-fold when our existing algorithms are all N-squared?" (a: with difficulty.) The discussion was at a reasonably high level of sophistication: pretty much everyone in the room had "seen the elephant", and representatives of the major analysis pipelines were also present."
metagenomics  genomics  futurism  biology  bacteria 
august 2010 by arthegall
"Distractions -- there's an app for that" (Omics! Omics!)
Keith Robison muses on what kind of app to develop for an Android device -- "Given that most of the datasets I work with now are enormous, it's hard to see any point to trying to access them via phone. A tiny browser for the UCSC genome database has some appeal, but that's sounding a bit ambitious."
android  mobile  programming  development  futurism  genomics  ideas  keith-robison 
july 2010 by arthegall
Leibler, Kussell, "Individual histories and selection in heterogeneous populations" PNAS
"Using “individual histories”—temporal sequences of all reproduction events and phenotypic changes of individuals and their ancestors—we present an alternative approach to quantifying selection in diverse experimental settings..."
via:cshalizi  pnas  selection  history  population-effects  genomics  research-article  statistics 
july 2010 by arthegall
"Time for Genetic Insurance" (Marginal Revolution)
"I originally discussed genetic insurance in Tabarrok, A. 1994. Genetic Testing: An Economic and Contractarian Analysis. Journal of Health Economics 13:75-91." -- To read.
alex-tabarrok  genetic-testing  genetics  medicine  genomics  personalized-genomics  insurance  health 
july 2010 by arthegall
New Scientist - 5th March 1987 "The race to map the human genome"
Picked up by Shaun...
Robert Weinberg (MIT): "I'm surprised consenting adults have been caught talking about it [sequencing the genome]... it makes no sense."
David Botstein (MIT): "I do not believe that there is any strong scientific justification for knowing the sequence of the entire human genome".

So, Shaun, do you think they (Botstein and Weinberg) have been proven right or wrong?
via:WanderingAengus  david-botstein  robert-weinberg  quotes  human-genome  genomics  futurism  science  biology 
june 2010 by arthegall
Synthetic Bacterial Genome Takes Over Cell - NYTimes.com
Amazingly, Nicholas Wade appears to have gotten cautious or negative comments from David Baltimore, George Church, *and* Leroy Hood -- a trifecta, of sorts.
nicholas-wade  nytimes  science  journalism  george-church  craig-venter  synthetic-biology  biology  news  genomics 
may 2010 by arthegall
Mondal et al. "Characterization of the RNA content of chromatin" (Genome Research 2010)
"To uncover the functional role of ncRNA in chromatin organization, we deep sequenced chromatin-associated RNAs (CARs) from human fibroblast (HF) cells. This resulted in the identification of 141 intronic regions and 74 intergenic regions harboring CARs. The intronic and intergenic CARs show significant conservation across 44 species of placental mammals."
chromatin  rna  genomics  ncrna  research-article  biology  via:arolfe 
may 2010 by arthegall
"The next five years of computational genomics at NHGRI" (Cryptogenomicon)
"Plan explicitly for sustainable exponential growth. We keep using metaphors of data “tsunamis” or “explosions”, but these metaphors are misleading. Big data in biology is not an unexpected disastrous event that we have to clean up after. The volume of data will continue to increase exponentially for the foreseeable future. We must make sober plans for sustainable exponential growth (this is not an oxymoron)." -- Sean Eddy's words are always Words of Wisdom.
sean-eddy  nih  futurism  genomics  data  sequencing 
may 2010 by arthegall
« earlier      

related tags

23andme  affinity-propagation  alex-tabarrok  algorithm  alignment  analogies-are-banned  android  annotation  anonymity  antisense-expression  arthritis  arxiv  assembly  aviv-regev  awesome  awful  bacteria  begging-the-question  bibliography  big-science  binding  biobricks  bioinformatics  biology  bivalent-marks  blog  book-chapter  bowtie  brain  broad  broad-institute  browser  burrows-wheeler-transform  cancer  cat-person  cds  celera  cell  cell-types  chemotherapeutics  chip  chip-chip  chip-seq  chipchip  chippet  chris-anderson  chris-reeder  chromatin  chromatin-immunoprecipitation  chromosomal-conformation  class  classification  cle  clinical-bioinformatics  clinical-genetics  clustering  coding  combinatorics  comment  commercial-software  comparative-genomics  compression  computation  computational-biology  computerscience  conference  consent  conservation  contamination  counting  course  craig-venter  craziness  curation  dammit  data  data-management  data-structures  database  dataset  david-botstein  de-bruijn-graph  debate  design  development  diabetes  differentiation  digestion  disease  dna  documentation  drosophila  drug-design  drug-discovery  drug-sensitivity  dyck-paths  e-coli  ecology  editorial  encode  epigenetics  eric-schadt  errors  eukaryotes  evidence-based-medicine  evolution  exome  exomes  expression  expression-analysis  expression-from-sequence  factory-science  fda  feline-behavior  figures  file-format  fly  food  forensic-science  forgery  ftp  functional-genomics  functional-rna  futurism  gattaca  gene  gene-expression  gene-regulation  genes  genetic-descrimination  genetic-testing  genetic-variation  genetics  genome  genome-browse  genomic-stability  genomic-variation  genomics  genomicsdatabase  genotype  geo  george-church  gina  gistic  government  graphical-models  graphics  growth  gwas  hamid-bolouri  hapmap  health  health-care  health-insurance  helicos  hickams-dictum  histone-marks  history  homepage  hox-genes  human-genome  human-genome-project  humor  hype  hypothesis-testing  idea  ideas  idiocy  illumina  index  infection  inference  infotheory  innovation  insurance  intellectual-property  intelligent-design  irrational-exuberance  isaac-kohane  jaspar  java  javascript  job  jonathan-eisen  journal  journal-article  journalism  journamalism  jurassic-park  keith-robison  kevin-struhl  knowledge-base  lactase  language  large-data  law  legal  lingpipe  list  locus  locus-reference-genomic  logic  longevity  machinelearning  magazine-article  mammals  management  masters-thesis  mathematics  mediator  medical-costs  medicine  mendelian-disease  menlo-park  meta-analysis  metagenomics  methylation  microarray-analysis  microarrays  microbes  microbiome  milk  millennium  mit  mobile  mouse  mutation  mutations  mygrid  n-of-one  nature  nature-biotechnology  nature-genetics  nature-news  ncbi  ncrna  networks  news  news-article  next-gen-sequencing  next-generation-sequencing  ngs  nicholas-wade  nih  noncoding-rna  notation  notes  novartis  npr  nucleosome-positioning  nyt  nytimes  occams-razor  oct4-nanog  omics  oncology  ontology  open  open-access  open-source  opensource  opinion  paleogenomics  paper  papers  partially-ordered-sets  partners  pathways  pavel-pevzner  pdf  peer-review  personal  personal-genomics  personalized-genomics  personalized-medicine  pgp  pharma  pharmaceuticals  phenotype  philanthropy  phylogenomics  pilot  pipe-dreams  platypus  plavix  ploidy  plos  plos-currents  plos-one  pnas  politics  polymorphism  population-effects  population-genetics  pork  presentation  primer  privacy  programming  project  protein-interactions  proteins  public  public-data  public-domain  publishing  pubmed  python  quantitative-biology  question  quilts  quotes  rdf  regulation  regulatory-networks  religion  replicates  research  research-article  researcher  retraction  retrospective  review  review-article  ridiculous  rna  rob-knight  robert-weinberg  rod-page  saeed-tavazoie  sbol  scandal  science  science-commons  sean-eddy  search  security  selection  seleno-cysteine  self-organizing-maps  semanticweb  sensor-networks  sequecing  sequence  sequence-analysis  sequence-assembly  sequence-conservation  sequence-variants  sequencing  sgd  significance-testing  small-science  snp  snps  social-networks  software  spittoon  sra  statistics  stem-cells  stemcells  steven-pinker  stomach  storage  strings  structural-variation  sybil-attacks  synthetic-biology  systems-biology  taverna  technology  technology-review  ted  text  tfs  the-coming-datapocalypse  the-untold-story  thesis  time-series  to-blog  to-read  to:blog  tool  tools  tophat  towers  toxoplasma-gondii  transcription  transcriptional-regulation  tumor  tutorial  uncertainty  variation  via:arolfe  via:chl  via:cshalizi  via:guslacerda  via:in-the-pipeline  via:jonathan-eisen  via:nytimes  via:rdowell  via:smahony  via:vaguery  via:WanderingAengus  video  visualization  wapo  web  why-oh-why-etc  wine  wolfram  work  workflow  wtf  xml  yeast  youtube  zak-kohane 

Copy this bookmark:



description:


tags: