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Phil Ewels
NGI Applications Development Facility
phil.ewels@scilifelab.se
New epigenomics services
ROYAL INSTITUTE
OF TECHNOLOGY
8
Platforms
37
Facilities
163
Research
groups
Guidelines
and support
Available to all
Swedish researchers
State-of-the-art
infrastructure
All icons © flaticon.com
Meetings
QC & Library
Preparation
Sequencing
Genotyping
Data analysis
& delivery
All icons © flaticon.com
Stockholm
SNP&Seq
Technology Platform
Uppsala
Genome
Centre
2018
61,471samples
975projects
588.6
x1012 base pairs
1X Human genome every

minute
Illumina
NovaSeq 6000
Oxford Nanopore
PromethION
PacBio
Sequel 6.0
Illumina
HiSeq
Illumina
NovaSeq 6000
Illumina
HiSeq
Flow cell
Sequencing lanes
Illumina
NovaSeq 6000
Illumina
HiSeq
Illumina
NovaSeq 6000
Illumina
HiSeq
One HiSeq X lane
~ one 30x coverage

Human genome
120 Gbp
One NovaSeq lane
~ six 30x coverage

Human genomes
750 Gbp
Illumina
NovaSeq 6000
Illumina
HiSeq
One HiSeq 2500 lane
~ 12 RNA samples

with 20M reads
250 M reads
One NovaSeq lane
~ 120 RNA samples

with 20 M reads
2500 M reads
Production methods
Validated library-preps run routinely
Under development
Testing new kits, actively looking for collaborators
Scaling up
Method is robust, now gaining experience and automation
Planned
Planning for the future, not yet tested
Epigenetics Methods
Hi-C
Modifications
Methylation
Enrichment
DNA-seq
RNA-seq
ATAC-seq
poly-A capture
rRNA removal
Low input
Degraded
Hi-C
Modifications
Methylation
Enrichment
DNA-seq
RNA-seq
ATAC-seq
PacBio isoform
Nanopore isoform
Single cell RNA
10x Genomics Chromium
See also: Eukaryotic Single Cell Genomics (ESCG)
http://escg.se/
Epigenetics Methods
Hi-C
Modifications
Methylation
Enrichment
DNA-seq
RNA-seq
ATAC-seq
PCR-free
Low input
Ideal for ChIP-seq!
Epigenetics Methods
Hi-C
Modifications
Methylation
Enrichment
DNA-seq
RNA-seq
ATAC-seq
WGBS

Whole genome bisulfite seq
RRBS

Reduced representation

bisulfite seq
Arrays

Infinium MethylationEPIC
Epigenetics Methods
Hi-C
Modifications
Methylation
Enrichment
DNA-seq
RNA-seq
ATAC-seq
oxBS

Oxidative bisulfite seq

for hydroxymethylation
Single cell bisulfite
Low input
Epigenetics Methods
Hi-C
Modifications
Methylation
Enrichment
DNA-seq
RNA-seq
ATAC-seq
Wikimedia Commons - ZaZo0o
Epigenetics Methods
Hi-C
Modifications
Methylation
Enrichment
DNA-seq
RNA-seq
ATAC-seq
Epigenetics Methods
-1 10
Sample 1
-1 10 -1 10
Sample 3Sample 2
Enrichment over promoter regions, +/-1 kbp
High
Low
NGI pilot project
Hi-C
Modifications
Methylation
Enrichment
DNA-seq
RNA-seq
ATAC-seq
Epigenetics Methods
Differentially Expressed Genes:
RNA vs ATACseq
NGI pilot project
Hi-C
Modifications
Methylation
Enrichment
DNA-seq
RNA-seq
ATAC-seq
Single cell ATAC-seq
10x Genomics Chromium
ATAC-seq
Epigenetics Methods
Hi-C
Modifications
Methylation
Enrichment
DNA-seq
RNA-seq
ATAC-seq
Crosslink DNA
Cut with RE End fill with biotin
Ligate
Shear
Sequence
Pull down
Lieberman-Aiden et. al.

Science (2009)
Epigenetics Methods
Hi-C
Modifications
Methylation
Enrichment
DNA-seq
RNA-seq
ATAC-seq
High
Low
Ulianov et. al.
International review of cell and molecular biology (2015)
Epigenetics Methods
Hi-C
Modifications
Methylation
Enrichment
DNA-seq
RNA-seq
ATAC-seq
High
Low
Rao et. al.
Cell (2014)
Epigenetics Methods
Hi-C
Modifications
Methylation
Enrichment
DNA-seq
RNA-seq
ATAC-seq
Arima Genomics
Dovetail Genomics
Epigenetics Methods
Hi-C
Modifications
Methylation
Enrichment
DNA-seq
RNA-seq
ATAC-seq
Nanopore
Direct modification seq
Epigenetics Methods
Hi-C
Modifications
Methylation
Enrichment
DNA-seq
RNA-seq
ATAC-seq
Epigenetics Methods
Hi-C
Modifications
Methylation
Enrichment
DNA-seq
RNA-seq
ATAC-seq
PacBio enrichment
CRISPR amplification-free
Epigenetics Methods
ChIP-seq
Hi-C
Modifications
Methylation
Enrichment
ChIP-seq
RNA-seq
ATAC-seq
Bioinformatics Analysis
https://nf-co.re
https://multiqc.info
support@ngisweden.se
NGI Stockholm

Applications Development Facility
phil.ewels@scilifelab.se
Phil Ewels
We want to hear from you!
https://ngisweden.scilifelab.se

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