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Prikvačeni tweet
So you've sequenced a genome - how well did you do? Celebrate
#DNADay19 by using@GenomeInABottle @usnistgov reference materials with@GA4GH best practices for benchmarking to answer this question. See how in@NatureBiotech papers https://rdcu.be/bue67 https://rdcu.be/bqpDT pic.twitter.com/nmqVIbPzNo
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Genome in a Bottle proslijedio/la je Tweet
Excited to post our new
@biorxivpreprint! "Haplotype Diversity and Sequence Heterogeneity of Human Telomeres" https://www.biorxiv.org/content/10.1101/2020.01.31.929307v1 … Thanks to data from@GenomeInABottle and GIAB collaborators as well as leadership from@LankyCyril and@jfooxHvala. Twitter će to iskoristiti za poboljšanje vaše vremenske crte. PoništiPoništi -
Genome in a Bottle proslijedio/la je Tweet
@PacBio 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!#HiFiReads@GenomeInABottlehttps://twitter.com/biorxivpreprint/status/1223509988188004352 …Hvala. Twitter će to iskoristiti za poboljšanje vaše vremenske crte. PoništiPoništi -
Genome in a Bottle proslijedio/la je Tweet
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.pic.twitter.com/euTaAqiI08
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Genome in a Bottle proslijedio/la je Tweet
Working with
@GenomeInABottle, 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.Hvala. Twitter će to iskoristiti za poboljšanje vaše vremenske crte. PoništiPoništi -
Genome in a Bottle proslijedio/la je Tweet
My presentation from
#PAG2020#PAGXXVIII this morning on HiCanu assembly:https://speakerdeck.com/skoren/hicanu-resolving-repeats-and-haplotypes …Hvala. Twitter će to iskoristiti za poboljšanje vaše vremenske crte. PoništiPoništi -
Genome in a Bottle proslijedio/la je Tweet
View BAM alignments in the NCBI genome browsers and sequence viewers sorted by haplotype tag https://ncbiinsights.ncbi.nlm.nih.gov/2020/01/02/haplotype-tag-bams/ … via
@NCBIHvala. Twitter će to iskoristiti za poboljšanje vaše vremenske crte. PoništiPoništi -
Want to help evaluate the new
@GenomeInABottle v4.1 small variant benchmark for@NIST 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 athttps://groups.google.com/d/msg/giab-analysis-team/xrgQuDgSGGM/U75kv4mlAgAJ …Hvala. Twitter će to iskoristiti za poboljšanje vaše vremenske crte. PoništiPoništi -
Genome in a Bottle proslijedio/la je Tweet
Our native RNA sequencing paper as part of the GM12878 RNA consortium is out: (https://www.nature.com/articles/s41592-019-0617-2 …). 6 different institutes across two continents worked to generate and analyze ~10M direct RNA sequencing reads. A few highlights:
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Thanks to
@DCGenomics and@BenedictPaten for leading the@NCBI@ucscgenomics pangenomics hackathon where this work was started!Prikaži ovu nitHvala. Twitter će to iskoristiti za poboljšanje vaše vremenske crte. PoništiPoništi -
We're excited for the first
@GenomeInABottle benchmark for the MHC! See Justin Wagner's poster at#gi2019 by@infoecho@tobiasmarschal@MikkoRautiaine3@erikgarrison... A Diploid Assembly-based Benchmark for Variants in the Major Histocompatibility Complexhttps://www.biorxiv.org/content/10.1101/831792v1 …Prikaži ovu nitHvala. Twitter će to iskoristiti za poboljšanje vaše vremenske crte. PoništiPoništi -
Genome in a Bottle proslijedio/la je Tweet
Somatic Truth Data from Cell Lineagehttps://www.biorxiv.org/content/10.1101/825042v1 …
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Genome in a Bottle proslijedio/la je Tweet
Join the
#referencematerial forum at#AMPath19 for exciting talks and cutting-edge development. Thanks Dr. Lisa Kalman!! @AMPath @Robyn_Temple @BzehnbaCaymanS @GenomeInABottlehttps://amp19.amp.org/program/special-events/amp-reference-materials-forum/ …Hvala. Twitter će to iskoristiti za poboljšanje vaše vremenske crte. PoništiPoništi -
Genome in a Bottle v0.6 Benchmark Structural Variants released in dbVar https://ncbiinsights.ncbi.nlm.nih.gov/2019/10/21/genome-in-a-bottle-structural-variants-dbvar/ … via
@NCBIHvala. Twitter će to iskoristiti za poboljšanje vaše vremenske crte. PoništiPoništi -
Genome in a Bottle proslijedio/la je Tweet
Pls RT. Want to join our Human Pangenome team?https://recruit.ucsc.edu/JPF00758 . Incredible opportunity to lead Telomere-to-telomere assembly production. Wonderful scientific community (plus Santa Cruz is amazing). DM
@BenedictPaten or myself for info.@ucscgenomics@HumanPangenomePrikaži ovu nitHvala. Twitter će to iskoristiti za poboljšanje vaše vremenske crte. PoništiPoništi -
Genome in a Bottle proslijedio/la je Tweet
DNAnexus helped build the benchmarks of a variant call for a difficult but medically important region in the human
#genome. Work like this will help work toward transforming translation medicine in the future.@GenomeInABottle@infoechohttp://ow.ly/b6ht50wQynNHvala. Twitter će to iskoristiti za poboljšanje vaše vremenske crte. PoništiPoništi -
Genome in a Bottle proslijedio/la je Tweet
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,
@infoecho,@sedlazeck,@geochurch and many others:https://www.biorxiv.org/content/10.1101/810341v1 …Prikaži ovu nitHvala. Twitter će to iskoristiti za poboljšanje vaše vremenske crte. PoništiPoništi -
Genome in a Bottle proslijedio/la je Tweet
The new
@GenomeInABottle v4 HG002 small variant benchmark looks great. For my slides from this morning’s session, check outhttps://speakerdeck.com/williamrowell/evaluation-of-hg002-v4-draft-benchmark-against-gatk-calls-on-pacbio-hifi-reads …Hvala. Twitter će to iskoristiti za poboljšanje vaše vremenske crte. PoništiPoništi -
Genome in a Bottle proslijedio/la je Tweet
New
@GenomeInABottle small variant benchmark (v4 draft) for HG002 covers an additional 6% of the genome and adds over 300k additional variants to the benchmark set.#ASHG19Prikaži ovu nitHvala. Twitter će to iskoristiti za poboljšanje vaše vremenske crte. PoništiPoništi -
Genome in a Bottle proslijedio/la je Tweet
Great introduction to
@GenomeInABottle by Justin Zook at#ASHG19 what are the currrnt and future objectives. Very exciting
@PacBio@illumina@nanoporepic.twitter.com/J3AQH22AED
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Justin Zook talks about new read-joining analysis done by
@mattloose on ultralong@GenomeInABottle@nanopore data for@PGorg HG002 - ~9x coverage by reads >250kb; ~3x >500kb; ~0.3x >1Mbp! https://www.slideshare.net/GenomeInABottle/clipboards/sharing …#ASHG19Hvala. Twitter će to iskoristiti za poboljšanje vaše vremenske crte. PoništiPoništi
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