de novo assembly Simon Rasmussen 36626: Next Generation Sequencing analysis DTU Bioinformatics Next Generation Sequencing Analysis
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1 de novo assembly Simon Rasmussen 36626: Next Generation Sequencing analysis DTU Bioinformatics Next Generation Sequencing Analysis
2 Generalized NGS analysis Data size Application Assembly: Compare Raw Pre- specific: Question Alignment / samples / Answer? reads processing Variant calling, de novo methods count matrix, Next Generation Sequencing Analysis
3 Generalized NGS analysis Data size Application Assembly: Compare Raw Pre- specific: Question Alignment / samples / Answer? reads processing Variant calling, de novo methods count matrix, Next Generation Sequencing Analysis
4 What is de novo assembly? Merge small DNA fragments together so they form a previously unknown sequence
5 What is de novo assembly? Merge millions reads together so they form previously unknown sequences
6 de novo assembly Assemble reads into longer fragments Find overlap between reads Many approaches reads& con*gs& scaffolds&
7 de novo assembly Assemble reads into longer fragments Find overlap between reads Many approaches reads& con*gs& scaffolds&
8 Lets try to assemble some reads! Rules: a minimum of 7-bp overlap overlap must not include any N bases same orientation so that the sequence can be read left to right there may be 1-bp differences simplified - no double stranded DNA..NNNNGGACTATGATTCG TGATTCGAGGCTAANN....NNNNNNNNCGATTCTGATCCGA GTCCTCGATTCTNNNNNNNN....NNNNCGGACTATGATT ATGATTCGAGGCTAANN....NNNNNNNNCGCTACTGATCCGA GTCCTCGATTCTGNNNNNNN..
9 Which are valid?..nnnncggactatgatt..nnnnggactatgattcg ATGATTCGAGGCTAANN.. TGATTCGAGGCTAANN....NNNNNNNNCGCTACTGATCCGA..NNNNNNNNCGATTCTGATCCGA GTCCTCGATTCTGNNNNNNN.. GTCCTCGATTCTNNNNNNNN..
10 Which are valid?..nnnncggactatgatt..nnnnggactatgattcg ATGATTCGAGGCTAANN.. TGATTCGAGGCTAANN....NNNNNNNNCGCTACTGATCCGA..NNNNNNNNCGATTCTGATCCGA GTCCTCGATTCTGNNNNNNN.. GTCCTCGATTCTNNNNNNNN..
11 Which approaches? Greedy ( Simple approach) Overlap-Layout-Consensus (OLC) de Bruijn graphs
12 Simple approach - Greedy Pseudo code: 1. Pairwise alignment of all reads 2. Identify fragments that have largest overlap 3. Merge these 4. Repeat until all overlaps are used Can only resolve repeats smaller than read length High computational cost with increasing no. reads
13 Reads > Contigs > Scaffolds Overlap Layout Consensus and de Bruijn use a similar general approach. 1. Try to correct sequence errors in reads with high coverage 2. Assemble reads to contiguous sequence fragments contigs 3. Identify repeat contigs 4. Combine and order contigs to scaffolds, with gaps representing regions of uncertainty
14 Overlap-Layout-Consensus Create overlap graph by all-vs-all alignment (Overlap) Build graph where each node is a read, edges are overlaps between reads (Layout) Example Schatz et al., Genome Res, 2010
15 Overlap-Layout-Consensus Create consensus sequence We need to use graph theory to solve the graph Walk the Hamiltonian path Eg. visit each node exactly once
16 Overlap-Layout-Consensus Create consensus sequence We need to use graph theory to solve the graph Walk the Hamiltonian path Eg. visit each node exactly once
17 Overlap-Layout-Consensus Create consensus sequence We need to use graph theory to solve the graph Walk the Hamiltonian path Eg. visit each node exactly once
18 Overlap-Layout-Consensus Create consensus sequence We need to use graph theory to solve the graph Walk the Hamiltonian path Eg. visit each node exactly once
19 Overlap-Layout-Consensus Create consensus sequence We need to use graph theory to solve the graph Walk the Hamiltonian path Eg. visit each node exactly once
20 Overlap-Layout-Consensus Create consensus sequence We need to use graph theory to solve the graph Walk the Hamiltonian path Eg. visit each node exactly once
21 Overlap-Layout-Consensus Create consensus sequence We need to use graph theory to solve the graph Walk the Hamiltonian path Eg. visit each node exactly once
22 Overlap-Layout-Consensus Create consensus sequence We need to use graph theory to solve the graph Walk the Hamiltonian path Eg. visit each node exactly once
23 Overlap-Layout-Consensus Create consensus sequence We need to use graph theory to solve the graph Walk the Hamiltonian path Eg. visit each node exactly once
24 Overlap-Layout-Consensus Create consensus sequence We need to use graph theory to solve the graph Walk the Hamiltonian path Eg. visit each node exactly once
25 Overlap-Layout-Consensus Create consensus sequence We need to use graph theory to solve the graph Walk the Hamiltonian path Eg. visit each node exactly once
26 Overlap-Layout-Consensus Create consensus sequence We need to use graph theory to solve the graph Walk the Hamiltonian path Eg. visit each node exactly once
27 Overlap-Layout-Consensus Create consensus sequence We need to use graph theory to solve the graph Walk the Hamiltonian path Eg. visit each node exactly once
28 Overlap-Layout-Consensus Create consensus sequence We need to use graph theory to solve the graph Walk the Hamiltonian path Eg. visit each node exactly once
29 Overlap-Layout-Consensus Create consensus sequence We need to use graph theory to solve the graph Walk the Hamiltonian path Eg. visit each node exactly once
30 Overlap-Layout-Consensus Create consensus sequence We need to use graph theory to solve the graph Walk the Hamiltonian path Eg. visit each node exactly once
31 Overlap-Layout-Consensus Create consensus sequence We need to use graph theory to solve the graph Walk the Hamiltonian path Eg. visit each node exactly once
32 Overlap-Layout-Consensus Create consensus sequence We need to use graph theory to solve the graph Walk the Hamiltonian path Eg. visit each node exactly once
33 Overlap-Layout-Consensus Create consensus sequence We need to use graph theory to solve the graph Walk the Hamiltonian path Eg. visit each node exactly once
34 Overlap-Layout-Consensus Create consensus sequence We need to use graph theory to solve the graph Walk the Hamiltonian path Eg. visit each node exactly once
35 Overlap-Layout-Consensus Create consensus sequence We need to use graph theory to solve the graph Walk the Hamiltonian path Eg. visit each node exactly once
36 Overlap-Layout-Consensus Create consensus sequence We need to use graph theory to solve the graph Walk the Hamiltonian path Eg. visit each node exactly once Imagine trying to solve this for a graph of hundred of thousands of nodes (=reads) - this is an NP-complete problem
37 Overlap-Layout-Consensus Not good with many short reads -> lots of alignment! With short read lengths, hard to resolve repeats Good for large read lengths: PacBio, Oxford Nanopore, 10X Genomics, 454, Ion Torrent, Sanger Example assemblers: Canu, Celera, Newbler
38 de Bruijn graph Directed graph of overlapping items (here DNA sequences) Instead of comparing reads, decompose reads into k- mers Graph is created by mapping the k-mers to the graph Each k-mer only exists once in the graph Problem is reduced to walking Eulerian path (visiting each edge once) - this is a solve-able problem
39 Drawbacks... Lots of RAM required ( GB!) Optimal k can not be identified a priori, must be experimentally tested for each dataset small k: very complex graph, large k: limited overlap in low coverage areas Iterative approach to find best assembly
40 How is the graph constructed? Same 10 reads, extract k-mers from reads and map onto graph, k = 3:
41 How is the graph constructed? Same 10 reads, extract k-mers from reads and map onto graph, k = 3:
42 How is the graph constructed? Same 10 reads, extract k-mers from reads and map onto graph, k = 3: GAC
43 How is the graph constructed? Same 10 reads, extract k-mers from reads and map onto graph, k = 3: 1 GAC
44 How is the graph constructed? Same 10 reads, extract k-mers from reads and map onto graph, k = 3: 1 1 GAC ACC
45 How is the graph constructed? Same 10 reads, extract k-mers from reads and map onto graph, k = 3: GAC ACC CCT
46 How is the graph constructed? Same 10 reads, extract k-mers from reads and map onto graph, k = 3: GAC ACC CCT CTA TAC ACA
47 How is the graph constructed? Same 10 reads, extract k-mers from reads and map onto graph, k = 3: GAC ACC CCT CTA TAC ACA
48 How is the graph constructed? Same 10 reads, extract k-mers from reads and map onto graph, k = 3: GAC ACC CCT CTA TAC ACA
49 How is the graph constructed? Same 10 reads, extract k-mers from reads and map onto graph, k = 3: GAC ACC CCT CTA TAC ACA CAA
50 How is the graph constructed? Same 10 reads, extract k-mers from reads and map onto graph, k = 3: GAC ACC CCT CTA TAC ACA CAA
51 How is the graph constructed? Same 10 reads, extract k-mers from reads and map onto graph, k = 3: GAC ACC CCT CTA TAC ACA CAA AAG AGT
52 How is the graph constructed? Same 10 reads, extract k-mers from reads and map onto graph, k = 3: GAC ACC CCT CTA TAC ACA CAA AAG AGT
53 How is the graph constructed? Same 10 reads, extract k-mers from reads and map onto graph, k = 3: 1 2 TAG 3 TTA GTT GAC ACC CCT CTA TAC ACA CAA AAG AGT
54 How is the graph constructed? Same 10 reads, extract k-mers from reads and map onto graph, k = 3: 1 2 TAG 3 TTA GTT GAC ACC CCT CTA TAC ACA CAA AAG AGT
55 How is the graph constructed? Same 10 reads, extract k-mers from reads and map onto graph, k = 3: 1 2 TAG 3 TTA GTT GAC ACC CCT CTA TAC ACA CAA AAG AGT 3 GTC 2 TCC 1 CCG
56 How is the graph constructed? Same 10 reads, extract k-mers from reads and map onto graph, k = 3: 1 2 TAG 3 TTA GTT GAC ACC CCT CTA TAC ACA CAA AAG AGT 3 GTC 2 TCC 1 No alignment is used! CCG Different assemblers uses different modifications of the de Bruijn graphs
57 Complicated graphs TAG TTA GTT GAC ACC CCT CTA TAC ACA CAA AAG AGT GTC TCC CCG
58 Complicated graphs TAG TTA GTT GAC ACC CCT CTA TAC ACA CAA AAG AGT GTC TCC CCG T G to T
59 Complicated graphs TAG TTA GTT GAC ACC CCT CTA TAC ACA CAA AAG AGT GTC TCC CCG T G to T
60 Complicated graphs TAG TTA GTT GAC ACC CCT CTA TAC ACA CAA AAG AGT GTC TCC T G to T
61 Complicated graphs TAG TTA GTT CTA TAC ACA CAA AAG AGT CCT TCC GTC T ACC GAC G to T
62 Complicated graphs TAG TTA GTT CTA TAC ACA CAA AAG AGT CCT TCC GTC T ACC GAC G to T Large genomes with many repeats/errors creates very large graphs
63 Create the de Bruijn graph of this genome using k=3 AAGACTCCGACTGGGACTTT
64 After building: Simplify 1 Clip tips 2 (seq err, end) 30 2 Pinch bubbles (seq err, middle, SNP) Remove low cov. links 27 2
65 After building: Simplify Clip tips (seq err, end) 30 2 Pinch bubbles (seq err, middle, SNP) Remove low cov. links 27 2
66 After building: Simplify Clip tips (seq err, end) 30 Pinch bubbles (seq err, middle, SNP) Remove low cov. links 27 2
67 After building: Simplify Clip tips (seq err, end) 30 Pinch bubbles (seq err, middle, SNP) Remove low cov. links 27
68 ... Create contigs and scaffolds C1 C2... Repeat... C3... C4
69 ... Create contigs and scaffolds C1 C2... Repeat... C3... C4
70 ... Create contigs and scaffolds C1 C2... Repeat... C3... C4
71 ... Create contigs and scaffolds Cut graph at repeat boundaries to create contigs C1 C2... Repeat... C3... C4
72 Create contigs and scaffolds Cut graph at repeat boundaries to create contigs C1... Repeat C2... C1 C2 C3 C4... C3... C4
73 Create contigs and scaffolds Cut graph at repeat boundaries to create contigs Use paired end information to resolve repeats and combine to scaffolds C1... Repeat C2... C1 C2 C3 C4... C3... C4
74 Create contigs and scaffolds Cut graph at repeat boundaries to create contigs Use paired end information to resolve repeats and combine to scaffolds C1... Repeat C2... C1 C2 C3 C4... C3... C4
75 Create contigs and scaffolds Cut graph at repeat boundaries to create contigs Use paired end information to resolve repeats and combine to scaffolds C1... Repeat C2... C1 C2 C3 C4... C3... C4 Fill potential gaps using PE reads S1 S2
76 Create contigs and scaffolds Cut graph at repeat boundaries to create contigs Use paired end information to resolve repeats and combine to scaffolds C1... Repeat C2... C1 C2 C3 C4... C3... C4 Fill potential gaps using PE reads S1 S2 The assembly is done
77 Iterate parameters Re-run with different k-sizes, find optimum Run with multiple k-mers at the same time! (eg. SPAdes) Compare assembly statistics such as, assembly length, N50, no. contigs Assembly refinement Break contigs not supported by PE/MP reads Analyze assembly using REAPR or QUAST
78 Successful de novo assembly Success is a factor of: Genome size, genomic repeats(!), ploidy High coverage, long read lengths, PE/MP libraries Repeats in E. coli
79 Improving de novo assemblies Paired end & Mate pair for long range continuity Hybrid approaches (combine Illumina with PacBio/ Oxford Nanopore) Synthetic long reads: Illumina Synthetic Reads (Moleculo) or 10X Genomics Hi-C contact maps
80 Two bacterial genomes de Bruijn graphs Few repeats more repeats b Flicek & Birney, Nat.Methods 2009 Zerbino, 2009
81 N50: Assembly quality N50: What is the smallest piece in the largest half of the assembly? Calculate sum of assembly Order contigs by size Sum contigs starting by largest When half the sum is reached, N50 is the length of the contig
82 N50 example 5 scaffolds, calculate N50: 200kb 150kb 140kb 125kb 95kb Sum: = 710kb Half: 710 / 2 = 355kb 200kb + 150kb = 350kb Start adding: 350kb + 140kb = 490kb 490kb > 355kb => N50: 140kb
83 Some assemblers OLC: Canu, Newbler de Bruijn: Allpaths-LG, SPAdes, Velvet, SOAPdenovo, Megahit, other: MIRA, SGA, Used in exercises today
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