Peter Audano
@peteraudano
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Programming and Bioinformatics PhD. Interested in engineering data solutions to solve problems in genomics and health.
Seattle, WA
Joined August 2012
Diverse mice sequenced with long reads identifies structural variation across substrains and chromatin remodeling by transposable elements.
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PAV is now containerized and available on Dockerhub (becklab/pav) and the Singularity container lib (library://becklab/pav/pav).
github.com
Phased assembly variant caller. Contribute to EichlerLab/pav development by creating an account on GitHub.
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Inversions with Strand-seq + long reads, recurrence, and disease associations, and community resource. Congrats @PorubskyDavid , @HopsWolfram , and Hufsah Ashraf.
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Clinical long-read sequencing, one step closer to seeing what we are missing in real disease cases. Thanks @danrdanny !
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On this day in 1681, The Duke of Albemarle founds boxing putting his butler and butcher up to a fight, Charles II gives Pennsylvania to William Penn, Mehmed IV rules the Ottoman empire, and Bjarne Stroustup invents C++.
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RT @mrvollger: Excited to finally share: Segmental duplications and their variation in a complete human genome! This is a product of an awe….
biorxiv.org
Despite their importance in disease and evolution, highly identical segmental duplications (SDs) have been among the last regions of the human reference genome (GRCh38) to be finished. Based on a...
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RT @glennis_logsdon: This is truly amazing work that will have broad impacts on the way we sequence, assemble, and analyze genomes in the f….
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RT @JanKorbel5: De novo assembly of 64 haplotype-resolved human genomes of diverse ancestry and integrated analysis of structural variation….
biorxiv.org
Long-read and strand-specific sequencing technologies together facilitate the de novo assembly of high-quality haplotype-resolved human genomes without parent–child trio data. We present 64 assembled...
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RT @tobiasmarschal: Strand-seq+HiFi = haplotype-resolved assemblies of single samples (ie. no parents data), N50>25Mbp, QV>40 (checked from….
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RT @mike_schatz: @aphillippy @khmiga Excited to hear @aphillippy publicly share the details of the first T2T assembly for the first time!….
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RT @aphillippy: The Telomere-to-Telomere consortium is proud to announce our v1.0 release of a complete human genome. When @khmiga asked me….
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RT @tobiasmarschal: Finally, WhatsHap goes polyploid! Very accurate, avoids overzealous phased block merging in the absence of read evidenc….
genomebiology.biomedcentral.com
Resolving genomes at haplotype level is crucial for understanding the evolutionary history of polyploid species and for designing advanced breeding strategies. Polyploid phasing still presents...
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RT @AJHGNews: New! Garg et al. survey epigenetic variation & highlight disease-relevant CGG repeat expansions
cell.com
There is growing recognition that epivariations, most often recognized as promoter hypermethylation events that lead to gene silencing, are associated with a number of human diseases. However, little...
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We are looking for a talented #bioinformatics programmer and analyst to join us! We take on the most difficult genomic loci, including #structuralvariation & segmental dup.s, for new bio insights. Help us finish the genome and fill in missing diversity!.
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I have a structural variation joke, ynnuf taht lla yllaer t'nsi hcihw, but you might still like it.
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RT @PacBio: Evan Eichler, @glennis_logsdon & @mrvollger discuss how the 'new lens' of long-read sequencing has allowed researchers to fill….
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RT @DrTomFrieden: HAPPY!! A hard-working, effective scientist .@CDCgov won the Flemming award. Congratulations Dr. Duncan MacCannell @dmacc….
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