Garan Jones

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Garan Jones

Garan Jones

@sanejargon

Research Fellow, University of Exeter. Researching single cell transcriptomics of neurodegenrative diseases. Semi-competent wrangler of a not-so little terror.

Cardiff / Swansea / Exeter Katılım Nisan 2015
535 Takip Edilen264 Takipçiler
Garan Jones retweetledi
Genome in a Bottle
Genome in a Bottle@GenomeInABottle·
Excited to announce we’ve constructed a complete, haplotype-resolved assembly of a human pancreatic cancer genome. By comparing tumor cell line and normal tissue assemblies directly, we developed phased somatic benchmarks. Thanks to many in GIAB! biorxiv.org/content/10.648…
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NENG HUANG
NENG HUANG@csuhuangneng·
Excited to share our new Nature Methods paper on longcallR, a Rust tool for long-read RNA-seq that jointly performs SNP calling and phasing, and enables haplotype-specific junction analysis. Thanks to @lh3lh3 for the support and guidance. Paper: nature.com/articles/s4159…
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Heng Li
Heng Li@lh3lh3·
If you have HiFi or Nanopore R10 metagenomic data, try myloasm from Jim Shaw. You will probably find more complete circular contigs to higher resolution especially for R10 or environmental samples. Scalable to >500GB data. Written in Rust. Published in @NatureBiotech
Jim Shaw@jim_elevator

Myloasm, our long-read metagenome assembler, is now published! w/ Max Marin & @lh3lh3 Very rewarding after > a year of development and countless hours thinking about assembly. Thanks to beta testers, Li lab, and reviewers for helpful feedback. Link: rdcu.be/famFj

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kez cleal
kez cleal@kezcleal·
Happy to share a new preprint exploring the idea that multicellular coordination may itself be a fundamental constraint in ageing, and asking how stochastic cellular damage is translated into tissue-level decline 🧵 preprints.org/manuscript/202…
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Eric Topol
Eric Topol@EricTopol·
Why should tumor whole genome sequencing (WGS) be done for cancer? In real practice of medicine study of 888 patients with solid cancers, WGS directly led to clinical consequences in over 40% @NatureMedicine nature.com/articles/s4159…
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Andrew Carroll
Andrew Carroll@acarroll_ATG·
Release of DeepVariant v1.10 Phased VCF output for long-reads Accuracy improvements for multi-allelic variants Pangenome accuracy improvements (18% fewer errors) Most technologies ~10% faster RNA-seq is a full supported mode DeepSomatic is 12-40% faster github.com/google/deepvar…
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Jakob Heinz
Jakob Heinz@JakobHeinz9·
Our paper on foldback artifacts in long-read sequencing is now published in BMC Genomics! We introduce Breakinator to flag foldback and chimeric artifacts across library types, sequencers, and chemistries. Paper: link.springer.com/article/10.118… With Matthew Meyerson and @lh3lh3
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Heng Li
Heng Li@lh3lh3·
I am looking for a postdoc to develop high-performance algorithms in computational genomics. Email or DM me if interested. For more information, see hlilab.github.io/vacancies. RTs appreciated!
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Vlad Pokatayev
Vlad Pokatayev@vladpokatayev·
Fibrosis drives ~50% of disease deaths, yet anti-fibrotics are limited. In our @Nature study we combine single-cell + spatial profiling of IBD patients with functional genomics to map a pro-fibrotic cell circuit centered on GLIS3. nature.com/articles/s4158…
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Heng Li
Heng Li@lh3lh3·
Thanks to the AWS Open Data program, this dataset along some derived data is also openly accessible via @AWSCloud at openhgl.s3.us-east-1.amazonaws.com/index.html
Heng Li@lh3lh3

579 high-quality human genomes from @HumanPangenome, Arab Pangenome and individual papers (CHM13, CN1, KSA001, I002C, YAO and KOREF1). Sequences available in the AGC format (3.7GB) and FM-index in the ropebwt3 format (20.3GB). For details, see github.com/lh3/human-asm

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Loïc Yengo
Loïc Yengo@LoicYengo·
We are pleased to announce that our new study explaining the missing heritability of many phenotypes using WGS data from ~347,000 UK Biobank participants has just been published in @Nature. Please check out our manuscript here: nature.com/articles/s4158….
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Doug Speed
Doug Speed@dougthespeed·
LDAK-KVIK is our new tool for mixed-model association analysis (MMAA) of quantitative and binary traits. LDAK-KVIK has the power of BOLT-LMM, but the computational demands of REGENIE. See the tweets below for more information.
Doug Speed tweet media
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Jeremy Leipzig
Jeremy Leipzig@jermdemo·
Public github repos of sequencing-related companies
Jeremy Leipzig tweet media
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Luke O'Connor
Luke O'Connor@Luke0connor·
New preprint on a surprising question - with a pangenome reference, *what is a genetic variant?* biorxiv.org/content/10.110… With Pouria Salehi Nowbandani, Shenghan Zhang, Haoyang Hu, and Heng Li @lh3lh3
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nature
nature@Nature·
Nature research paper: Whole-genome sequencing of 490,640 UK Biobank participants go.nature.com/45KBcTN
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UK Biobank
UK Biobank@uk_biobank·
✅ Published in @Nature today, the paper describing the initial whole-genome sequencing analysis of 500,000 UK Biobank participants. nature.com/articles/s4158…
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Keşfet

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