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DeepConsensus: improving accuracy of genomic sequencing
Nature Biotechnology, 2022
Paper
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Blog
Post
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GitHub
DeepConsensus uses a Transformer to reduce errors in PacBio
Circular Consensus Sequencing (CCS) data by 59%. This method is now deployed on
PacBio Revio sequencers.
Awarded Best Scientific Breakthrough (one project across Alphabet).
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Scaling autoregressive models for content-rich text-to-image generation
TMLR, 2022
Paper
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Website /
Blog
Post
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GitHub
Parti (Pathways Autoregressive Text-to-Image)
is an autoregressive
text-to-image generation model that achieves high-fidelity photorealistic image
generation and supports content-rich synthesis involving complex compositions
and world knowledge.
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PrecisionFDA Truth
Challenge
V2: Calling variants from short and long reads in difficult-to-map
regions
Cell Genomics, 2022
Paper
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Challenge Results
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Blog
Post
This challenge assessed variant calling pipelines on reference datasets, with a
focus on difficult-to-map regions, segmental duplications, and the Major
Histocompatibility Complex (MHC). DeepVariant recevied
best overall accuracy in 3 out of 4 sequencing instrument categories, and we
released an improved version of the submitted model as DeepVariant
v1.0.
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Accelerated identification of disease-causing variants with ultra-rapid nanopore
genome sequencing
Nature Biotechnology, 2022
Paper
/
Blog
Post
This pipeline performs distributed whole-genome Nanopore sequencing, near
real-time base calling and alignment, accelerated variant calling, and custom
variant prioritization. We received a Guiness
World Record for fastest DNA sequencing technique.
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Ultrarapid nanopore genome sequencing in a critical care setting
New England Journal of Medicine, 2022
Paper
Whole-genome sequencing was performed for twelve patients in critical care using
an accelerated pipeline. The shortest time from arrival of the blood sample to
the initial diagnosis was 7 hours 18 minutes. A pathogenic or
likely pathogenic variant was identified in five out of 12 patients.
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Haplotype-aware variant
calling with
PEPPER-Margin-DeepVariant enables high accuracy in nanopore
long-reads
Nature Methods, 2021
Paper
/
GitHub
PEPPER-Margin-DeepVariant is a haplotype-aware variant calling pipeline for
Oxford Nanopore data that produces state-of-the-art results.
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DeepTrio: variant calling in families using deep learning
bioRxiv, 2021
Paper
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Blog
Post
We extend DeepVariant to to consider the genetic variants in mother-father-child
trios. Coexamination of available parental data improves the accuracy of variant
calls for the child. The DeepTrio model was released as part of DeepVariant
v1.1.
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An extensive sequence dataset of gold-standard samples for benchmarking and
development
bioRxiv, 2020
Paper
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Dataset
We provide a benchmark dataset of WGS and WES samples from HG001-7 and NA12878/9
from a variety of sequencers. We characterize properties of the data and present
variant calling results on these samples.
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