David Townley
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David Townley
@davidjtownley.bsky.social
320 followers 1.3K following 4 posts
Commercial Bioinformatics @illumina - views are my own

Cambridge, UK - https://www.linkedin.com/in/davidjtownley/
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Powering genetic rare disease diagnostics with AWS at Hannover Medical School (MHH) #illumina #DRAGEN #illuminaconnectedanalytics #nextflow @awscloud.bsky.social
aws.amazon.com/blogs/public...
Powering genetic rare disease diagnostics with AWS at Hannover Medical School (MHH) | Amazon Web Services
The Whole Genome Sequencing (WGS) based genetic diagnostics has revolutionized our ability to identify and understand rare diseases, particularly in pediatric cases where early diagnosis, sometimes wi...
aws.amazon.com
August 28, 2025 at 1:41 PM
Reposted by David Townley
nature.com
Nature research paper: Whole-genome sequencing of 490,640 UK Biobank participants

go.nature.com/46EtTyW
Whole-genome sequencing of 490,640 UK Biobank participants - Nature
A study reports whole-genome sequences for 490,640 participants from the UK Biobank and combines these data with phenotypic data to provide new insights into the relationship between human variation and sequence variation.
go.nature.com
August 6, 2025 at 4:07 PM
Reposted by David Townley
ukbiobank.bsky.social
✅ Published in @natureportfolio.nature.com today, the paper describing the initial whole-genome sequencing analysis of 500,000 UK Biobank participants.

Read here: www.nature.com/articles/s41...
Whole-genome sequencing of 490,640 UK Biobank participants - Nature
A study reports whole-genome sequences for 490,640 participants from the UK Biobank and combines these data with phenotypic data to provide new insights into the relationship between human variation a...
www.nature.com
August 6, 2025 at 3:17 PM
Reposted by David Townley
kjaganatha.bsky.social
We're thrilled to introduce PromoterAI — a tool for accurately identifying promoter variants that impact gene expression. 🧵 (1/)
May 29, 2025 at 6:29 PM
Reposted by David Townley
nature.com
Nature research paper: Complete sequencing of ape genomes

https://go.nature.com/3EfWwqk
Complete sequencing of ape genomes - Nature
Complete sequences of chromosomes telomere-to-telomere from chimpanzee, bonobo, gorilla, Bornean orangutan, Sumatran orangutan and siamang provide a comprehensive and valuable resource for future evolutionary comparisons.
go.nature.com
April 9, 2025 at 4:55 PM
Reposted by David Townley
nature.com
“I’ve never thought that this would be accomplished in my lifetime”

Researchers have successfully sequenced the complete genomes of six ape species

https://go.nature.com/4j9jE9k
What makes us human? Milestone ape genomes promise clues
DNA sequences for the chimpanzee, orangutans and more will help scientists to determine what sets humans apart from other apes.
go.nature.com
April 9, 2025 at 4:14 PM
Reposted by David Townley
mrclmb.bsky.social
We’re thrilled to be welcoming Shankar Balasubramanian for the first LMB Named Lecture of 2025!
On Wednesday 19th February, Shankar will join us to deliver the Francis Crick Lecture on ‘The DNA Quadruplex Helix’
Visit our website for more details: www2.mrc-lmb.cam.ac.uk/news-and-eve...
#LMBSeminar
Francis Crick Lecture Shankar Balasubramanian Herchel Smith Professor of Medicinal Chemistry, University of Cambridge The DNA Quadruplex Helix Wednesday 19 February at 10 am Max Perutz Lecture Theatre and Zoom Details on the LMB Website Sponsored by AstraZeneca
January 28, 2025 at 3:05 PM
Reposted by David Townley
Our first curated draft somatic structural variant benchmark for the new GIAB PDAC tumor cell line HG008-T is at ftp-trace.ncbi.nlm.nih.gov/ReferenceSam..., based on extensive short+long read sequencing data described in doi.org/10.1101/2024.... Feedback to improve future versions is very welcome!
Index of /ReferenceSamples/giab/data_somatic/HG008/Liss_lab/analysis/NIST_HG008-T_somatic-stvar_DraftBenchmark_V0.1-20241219
ftp-trace.ncbi.nlm.nih.gov
December 20, 2024 at 6:04 PM
Programs around the globe bring newborn screening into the Genome Era #illumina 🧬🥼🧪
www.illumina.com/company/news...
Programs around the globe bring newborn screening into the Genome Era
Pilot projects and early data support the case for sequencing that could make a critical difference for infants and their families
www.illumina.com
December 13, 2024 at 1:28 PM
Reposted by David Townley
natureportfolio.nature.com
A collection published across Nature Portfolio journals presents early draft maps of cells in the human body from the Human Cell Atlas initiative. The research leverages new data and analytical tools to aid our understanding of human health and disease at a cellular level. 🧪
The Human Cell Atlas: towards a first draft atlas
In a collection of research articles and related content, the Human Cell Atlas consortium presents tools, data and ideas towards the generation of their first draft atlas of cells in the human body.
go.nature.com
November 20, 2024 at 4:50 PM
WEBINAR: Streamlining data analysis of genomes & exomes in oncology clinical research. #WGS & #WES analysis & variant interpretation for clinical research plus a demo of WGS variant interpretation & report generation #illumina

5 Dec 2024, 4pm CET (1hr)
Register here: ilmn.ly/dataonc
November 14, 2024 at 2:46 PM
A peer reviewed publication in #NatureBiotech highlights the comprehensiveness, accuracy & scalability of #Illumina #DRAGEN germline algorithms. Get access to the data, truth sets used, & detailed analysis steps. Read the publication to learn more: go.nature.com/48qWp5R
Comprehensive genome analysis and variant detection at scale using DRAGEN - Nature Biotechnology
DRAGEN rapidly identifies diverse types of genetic variants.
go.nature.com
November 11, 2024 at 2:47 PM