Wednesday 13 May 2015

#AGBT15 poster highlghts

Oops, I forgot to publish this post after the meeting!

So many posters at AGBT and so little time. I did not get round everything and these highlights were some of the many that caught my eye. I'd like to hope the organisers make the posters available in a more searchable and downloadable format for next year since we'll all be nipping into Disney or Harry Potter world! It would also be nice if these were downloadable for anyone, and not just conference attendees!

Cancer Genomics:
  • Detection of oncogenic fusion transcripts using Archer targeted sequencing technology
  • Optimizing tumour genome sequencing and analysis
  • Non-invasive cell-free tumour DNA-based detection of copy-number variations in breast and ovarian cancer samples
  • Detecting structure; variants and phasing haplotypes from cancer exome sequencing using 1ng DNA input (10X Genomics)
  • Comparative analysis of methods to detect copy number variations using single cell sequencing technique
  • Single cell DNA seq of breast cancer
  • Single cell sequencing identifies clonal stasis and punctuated copy-number evolution in triple-negative breast cancers
  • Differentiation of 5-methylcytosine and 5-hydroxymethylcytosine using Illumina infinium HumanMethylation450 beachip
  • A high-throughput method for single cell whole genome bisulfite sequencing
General Biology:
  • Mapping the "dark matter" of the genome with super long molecules – the unknown unknown
  • Unlocking protein expression in single cells using Fluidigm's C1 single-cell auto prep station
Genomics Application Development:
  • A novel target capture technique for next-generation sequencing
  • Exome library construction on an integrated microfluidic device
  • Transposase-mediated sample preparation improvements enable high-throughput variant detection using Human whole exome sequencing
  • Error proofing exome sequencing for somatic variant detection: combining analytic tools and lab process improvements to uncover and reduce artifacts in exome sequencing
  • Contiguity preserving transposition sequencing (CPT-seq) for phasing and assembly
  • Assembly of complete KIR haplotypes from a diploid individual by the direct sequencing of full-length Fosmids
  • Demultiplexing is a significant contributor to apparent cross-contamination between samples
  • Spatial single cell miRNA analysis reveals differential expression within tissue sections
  • G&T-seq: separation and parallel sequencing of the genomes and transcriptomes of single cells
  • Comparison of library prep kits for low input whole exome sequencing
  • Application of NGS technology to rare mutation detection in ctDNA and CTCs
  • High-throughput nucleic acid extraction and library construction from FFPE tissue specimens
Genomics Medicine:
  • Single-molecule DNA analysis of FMR-1 using SIMDEQ
  • Dissecting the genetic architecture of longevity using massive-scale crowd-sourced genealogy
  • Sequencing under a quality system: sensitive detection of molecular biomarkers from whole exomes and custom gene panels in support of clinical trials
  • Design and implementation of an informatics infrastructure for clinical genomics reporting and decision support
  • Centralizing an electronic informed consent platform to enable large-scale genomics research
  • Hypthesis free gene fusion detection
  • Utilization of whole genome analyse approaches for personalised therapy decision making in patients with advanced malignancies
  • Clinical performance of exome capture technology: Impact of kits, coverage and analysis
  • Targeted RNA-sequencing for simultaneous expression profiling and detection of clinically relevant gene rearrangements in FFPE biopsies
  • A novel next-generation sequencing (NGS)-based companion diagnostic predicts response to the PARP inhibitor Rucaparib in ovarian cancer
Informatics/Computational Biology:
  • A full diploid assembly of a breast cancer genome using read clouds
  • Chromatin structure fully determines replication timing program in Human cells
  • Anchored assembly: accurate structural variant detection using short-read data
  • How much data do we really need for human genomes and exomes?
  • Industrial-scale complete DNA-seq ad RNA-seq analysis kits for every researcher
  • Lab7 enterprise sequencing platform: a comprehensive NGS workflow solution
  • Error correction and de novo assembly of Oxford Nanopore sequencing
  • Dollars & science: publishing and patenting strategies in Biotech
  • Towards real-time surveillance approaches using nanopore sequencers
  • Beer-omics: Microbial populations and dynamics in fermentation
  • 16S rRNA gene sequencing – comparing paired-end and single-end read data generation
  • City-scale DNA dynamics, disease surveillance, and metagenomics profiling
Technology Development:
  • Detection of genetic variants via enzymatic mismatch cleavage
  • Single-cell RNA profiling by spatial transcriptomics in prostate cancer
  • Air-seq: metagenomic sequencing for pathogen surveillance in bioaerosols
  • Integrated DNA and RNA sequencing of single cells
  • Predicting sequencing performance of FFPE samples prior to next-generation sequencing using KAPA human genomic DNA quantification and QC kit
  • Drop-seq: A droplet-based technology for single-cell mRNA-seq analysis on a massive scale

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