Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency.
Haack TB, Danhauser K, Haberberger B, et al.
Nat Genet. 2010 Nov 7. [Epub ahead of print]
Analysis and design of RNA sequencing experiments for identifying isoform regulation.
Katz Y, Wang ET, Airoldi EM, Burge CB.
Nat Methods. 2010 Nov 7. [Epub ahead of print]
FragSeq: transcriptome-wide RNA structure probing using high-throughput sequencing.
Underwood JG, Uzilov AV, Katzman S, Onodera CS, et al.
Nat Methods. 2010 Nov 7. [Epub ahead of print]
Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome.
Bonnefond A, Durand E, Sand O, De Graeve F, et al.
PLoS One. 2010 Oct 26;5(10):e13630.
Microbiome profiling by Illumina sequencing of combinatorial sequence-tagged PCR products.
Gloor GB, Hummelen R, Macklaim JM, Dickson RJ, et al.
PLoS One. 2010 Oct 26;5(10):e15406.
Genome-wide fitness and genetic interactions determined by Tn-seq, a high-throughput massively parallel sequencing method for microorganisms.
Opijnen T, Camilli A.
Curr Protoc Microbiol. 2010 Nov;Chapter 1:Unit1E.3.
Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.
Janssen S, Ramaswami G, Davis EE, Hurd T, et al.
Hum Genet. 2010 Oct 30. [Epub ahead of print]
Frequent mutation of BAP1 in metastasizing uveal melanomas.
Harbour JW, Onken MD, Roberson ED, Duan S, et al.
Science. 2010 Nov 4. [Epub ahead of print]
TIARA: a database for accurate analysis of multiple personal genomes based on cross-technology.
Hong D, Park SS, Ju YS, Kim S, et al.
Nucleic Acids Res. 2010 Nov 4. [Epub ahead of print]
Quantifying microbial communities with 454 pyrosequencing: Does read abundance count?
Amend AS, Seifert KA, Bruns TD.
Mol Ecol. 2010 Nov 3. doi: 10.1111/j.1365-294X.2010.04898.x. [Epub ahead of print]
Development of a low bias method for characterizing viral populations using next-generation sequencing technology.
Willerth SM, Pedro HA, Pachter L, Humeau LM, et al.
PLoS One. 2010 Oct 22;5(10):e13564.
Massively parallel sequencing for monitoring genetic consistency and quality control of live viral vaccines.
Neverov A, Chumakov K.
Proc Natl Acad Sci U S A. 2010 Nov 1. [Epub ahead of print]
Exposing malaria in-host diversity and estimating population diversity by capture-recapture using massively parallel pyrosequencing.
Juliano JJ, Porter K, Mwapasa V, Sem R, et al.
Proc Natl Acad Sci U S A. 2010 Nov 1. [Epub ahead of print]
High-throughput discovery of rare insertions and deletions in large cohorts.
Vallania FL, Druley TE, Ramos E, Wang J, et al.
Genome Res. 2010 Nov 1. [Epub ahead of print]
miRBase: integrating microRNA annotation and deep-sequencing data.
Kozomara A, Griffiths-Jones S.
Nucleic Acids Res. 2010 Oct 30. [Epub ahead of print]
Discovery of non-ETS gene fusions in human prostate cancer using next-generation RNA sequencing.
Pflueger D, Terry S, Sboner A, Habegger L, et al.
Genome Res. 2010 Oct 29. [Epub ahead of print]
Global epigenomic analysis of primary human pancreatic islets provides insights into type 2 diabetes susceptibility loci.
Stitzel ML, Sethupathy P, Pearson DS, Chines PS, et al.
Cell Metab. 2010 Nov 3;12(5):443-55.
Detection of copy number variation from array intensity and sequencing read depth using a stepwise Bayesian model.
Zhang ZD, Gerstein MB.
BMC Bioinformatics. 2010 Oct 31;11(1):539. [Epub ahead of print]
Genotator: A disease-agnostic tool for genetic annotation of disease.
Wall DP, Pivovarov R, Tong M, Jung JY, et al.
BMC Med Genomics. 2010 Oct 29;3(1):50. [Epub ahead of print]
DNA capture into a nanopore: Interplay of diffusion and electrohydrodynamics.
Grosberg AY, Rabin Y.
J Chem Phys. 2010 Oct 28;133(16):165102.
Regulated post-transcriptional RNA cleavage diversifies the eukaryotic transcriptome.
Mercer TR, Dinger ME, Bracken CP, Kolle G, et al.
Genome Res. 2010 Nov 2. [Epub ahead of print]
Evaluation of affinity-based genome-wide DNA methylation data: Effects of CpG density, amplification bias, and copy number variation.
Robinson MD, Stirzaker C, Statham AL, Coolen MW, et al.
Genome Res. 2010 Nov 2. [Epub ahead of print]
Gene expression profiling of human breast tissue samples using SAGE-seq.
Wu ZJ, Meyer CA, Choudhury S, Shipitsin M, et al.
Genome Res. 2010 Nov 2. [Epub ahead of print]