Genome in a Bottle

@GenomeInABottle

NIST hosts the Genome in a Bottle Consortium to develop reference materials, reference data, and reference methods needed to benchmark human genome sequencing

Vrijeme pridruživanja: kolovoz 2012.

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  1. Prikvačeni tweet

    So you've sequenced a genome - how well did you do? Celebrate by using @usnistgov reference materials with best practices for benchmarking to answer this question. See how in papers

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  2. proslijedio/la je Tweet
    3. velj

    Excited to post our new ! "Haplotype Diversity and Sequence Heterogeneity of Human Telomeres" Thanks to data from and GIAB collaborators as well as leadership from and

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  3. proslijedio/la je Tweet
    1. velj

    High Accuracy Long Reads open up new unexplored regions of the human genome: "We find that long telomeric stretches can be accurately captured with long-read [PacBio HiFi] sequencing". One step closer to Telomere-to-Telomere de novo assembly!

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  4. proslijedio/la je Tweet
    27. sij

    This screenshot shows that there are still quite a number of homozygous islands (~ 100 to 200kb) of the HG002 MHG region. We will need multiple data type / different and quick assembly strategy to resolve the full haplotypes.

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  5. proslijedio/la je Tweet
    24. sij
    Odgovor korisniku/ci

    Working with , we build extended benchmarking variant sets for HG002 MHC region. I think the results will help to improve the algorithm to call variants better for the MHC region.

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  6. proslijedio/la je Tweet
    15. sij
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  7. proslijedio/la je Tweet
    2. sij

    View BAM alignments in the NCBI genome browsers and sequence viewers sorted by haplotype tag via

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  8. Want to help evaluate the new v4.1 small variant benchmark for RM8391 (HG002) that enables you to assess accuracy in more difficult regions, including many segmental duplications, difficult-to-map regions, and the MHC? See details at

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  9. proslijedio/la je Tweet
    18. stu 2019.

    Our native RNA sequencing paper as part of the GM12878 RNA consortium is out: (). 6 different institutes across two continents worked to generate and analyze ~10M direct RNA sequencing reads. A few highlights:

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  10. Thanks to and for leading the pangenomics hackathon where this work was started!

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  11. We're excited for the first benchmark for the MHC! See Justin Wagner's poster at by ... A Diploid Assembly-based Benchmark for Variants in the Major Histocompatibility Complex

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  12. proslijedio/la je Tweet
    5. stu 2019.

    Somatic Truth Data from Cell Lineage

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  13. proslijedio/la je Tweet
    4. stu 2019.

    Join the forum at for exciting talks and cutting-edge development. Thanks Dr. Lisa Kalman!! ⁦⁩ ⁦⁩ ⁦⁩ ⁦

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  14. Genome in a Bottle v0.6 Benchmark Structural Variants released in dbVar via

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  15. proslijedio/la je Tweet
    23. lis 2019.

    Pls RT. Want to join our Human Pangenome team?. Incredible opportunity to lead Telomere-to-telomere assembly production. Wonderful scientific community (plus Santa Cruz is amazing). DM or myself for info.

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  16. proslijedio/la je Tweet
    21. lis 2019.

    DNAnexus helped build the benchmarks of a variant call for a difficult but medically important region in the human . Work like this will help work toward transforming translation medicine in the future.

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  17. proslijedio/la je Tweet
    18. lis 2019.

    Our preprint on accurate chr-scale phased de novo assembly of human genomes. 24hr/sample. Require CCS and Hi-C w/o trios. Longer contig N50 and better phasing coverage than state of art. By Shilpa Garg, , , and many others:

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  18. proslijedio/la je Tweet
    15. lis 2019.

    The new v4 HG002 small variant benchmark looks great. For my slides from this morning’s session, check out

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  19. proslijedio/la je Tweet
    15. lis 2019.

    New small variant benchmark (v4 draft) for HG002 covers an additional 6% of the genome and adds over 300k additional variants to the benchmark set.

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  20. proslijedio/la je Tweet
    15. lis 2019.

    Great introduction to by Justin Zook at what are the currrnt and future objectives. Very exciting 👏

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  21. Justin Zook talks about new read-joining analysis done by on ultralong data for HG002 - ~9x coverage by reads >250kb; ~3x >500kb; ~0.3x >1Mbp!

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