Deep Learning for Shallow Sequencing Johnny Israeli Nvidia - - PowerPoint PPT Presentation

deep learning for shallow sequencing
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Deep Learning for Shallow Sequencing Johnny Israeli Nvidia - - PowerPoint PPT Presentation

Deep Learning for Shallow Sequencing Johnny Israeli Nvidia Genomics Group GTC 2018 1 Talk Outline A Study of Breast Cancer Sequencing Technologies Deep Learning for Genomics Enhancing Sequencing with Deep Learning 2 100 Pa


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Deep Learning for Shallow Sequencing

Johnny Israeli Nvidia Genomics Group GTC 2018

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Talk Outline

  • A Study of Breast Cancer
  • Sequencing Technologies
  • Deep Learning for Genomics
  • Enhancing Sequencing with Deep Learning
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25 μm

100 Pa 2000 Pa

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ATAC-seq profiling of genomic elements controlling gene expression

Map to genome

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Control elements activated in stiff cells reveal the SP1 DNA motif

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Knock down of SP1 in stiff cells removes invasive phenotype Soft Stiff SP1 Knock down

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Sequencing Technologies

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Genome Analyzer IIx HiSeq 2500 MinION SmidgeION

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Sequencers as Counting Devices

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Sequencers as Counting Devices

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Sequencers as Counting Devices

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Sequencers as Counting Devices

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Diverse sequencing-based technologies

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Growth of single cell sequencing

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Deep Learning for Genomics

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DL4Genomics takes off 2015

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DeepSEA (2015): Predicting effects of variations in the non-coding genome with deep learning

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DeepVariant (2016): Detection of single nucleotide genomic variations and insertions/deletions with deep learning

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Chiron (2017): Translating MinION measurements into DNA Sequence with Deep Learning

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1,700 Models!

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Enhancing Sequencing with Deep Learning

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Is this the same ATAC-seq signal?

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Is this the same ATAC-seq signal?

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50M DNA Reads 5M DNA Reads

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Enhancing ATAC-seq with Deep Learning

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50M DNA Reads 5M DNA Reads

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50M DNA Reads 5M DNA Reads

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Enhancing ATAC-seq with Deep Learning

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50M DNA Reads 5M DNA Reads

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50M DNA Reads 5M DNA Reads Linear Model Enhancement

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Enhancing ATAC-seq with Deep Learning

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50M DNA Reads 5M DNA Reads Linear Model Enhancement Deep Learning Enhancement 50M DNA Reads 5M DNA Reads

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Enhancing ATAC-seq with Deep Learning

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50M DNA Reads 5M DNA Reads

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50M DNA Reads 5M DNA Reads Linear Model Enhancement Deep Learning Enhancement

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Enhancing ATAC-seq with Deep Learning

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50M DNA Reads 5M DNA Reads

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5M DNA Reads Signal Enhanced by DL ~ 20M Signal!

Enhancing ATAC-seq with Deep Learning

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More Sequencing Data Better Deep Learning Models Cheaper Signal Generation Better Data Enhancement

Augmenting Sequencers with Deep Learning

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Genomics @ Nvidia (we are hiring!)

Joint work with

  • Nvidia AI Infrastructure
  • Nvidia Research
  • Nvidia Healthcare

Nikolai Yakovenko

Thank you for listening! Questions? jisraeli@nvidia.com