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(4-B/N) update and run fusion summary #513

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Jan 3, 2024
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bccc21e
update and run fusion summary
jharenza Dec 30, 2023
7d2fa49
run tmb
jharenza Dec 30, 2023
d62ea60
Merge branch 'focal-cn-v13' into fus-summ-v13
jharenza Dec 30, 2023
5782a54
Merge branch 'fus-summ-v13' into tmb-v13
jharenza Dec 30, 2023
c7e9db2
run gsva
jharenza Dec 30, 2023
927e051
run tp53
jharenza Dec 30, 2023
4c0a3e8
rerun MB
jharenza Dec 30, 2023
e1bfb98
restore yaml
jharenza Dec 30, 2023
9436603
run cranio
jharenza Dec 30, 2023
1d0e8e6
pull code from PR493 and rerun
jharenza Dec 30, 2023
92d096e
use keep cols for maf merge
jharenza Dec 30, 2023
a288f32
Merge branch 'mb-v13' into epn-v13
jharenza Dec 30, 2023
96a53b3
run embryonal subtype for v13
zzgeng Dec 15, 2023
acd2b53
add match id and remove PPTC NBL samples
zzgeng Dec 17, 2023
36e0f90
add code from PR494 and rerun
jharenza Dec 30, 2023
b4e4332
pull code from PR495 and rerun
jharenza Dec 30, 2023
1d61240
update gitignore
jharenza Dec 30, 2023
0817909
remove rds file from git
jharenza Dec 30, 2023
a288752
update gitignore
jharenza Dec 30, 2023
3bfdb6f
use match id, rerun with v13
jharenza Dec 17, 2023
3813978
add match id, rerun for v13
jharenza Dec 17, 2023
c5e9746
rerun
jharenza Dec 30, 2023
40543a8
add match_id, run v13
jharenza Dec 17, 2023
b255a95
add match id, run pineo v13
jharenza Dec 17, 2023
0a0f304
rerun
jharenza Dec 30, 2023
fd3e585
pull code from PR500 and rerun:
jharenza Dec 30, 2023
b63010f
pull code from PR502 and rerun
jharenza Dec 30, 2023
63d0629
pull code from PR502 and rerun
jharenza Dec 30, 2023
da15e2f
pull code from PR505 and rerun
jharenza Dec 30, 2023
7203b4a
pull code from PR506 and rerun
jharenza Dec 30, 2023
0ab32d0
make else statement for GA
jharenza Dec 30, 2023
80e9d61
fix df in else
jharenza Dec 30, 2023
8cedd42
Merge branch 'mb-v13' into epn-v13
jharenza Dec 30, 2023
ddeff93
Merge branch 'epn-v13' into emb-v13
jharenza Dec 30, 2023
2b70f6a
remove MN1--MN1 fusions, as they are in epn/lgg not emb
jharenza Dec 30, 2023
e874761
Merge branch 'emb-v13' into chordoma-v13
jharenza Dec 30, 2023
ca4f696
change rds to scratch to fix perm issue, rerun
jharenza Dec 30, 2023
c833738
Merge branch 'chordoma-v13' into ews-v13
jharenza Dec 30, 2023
339b356
Merge branch 'ews-v13' into neuro-v13
jharenza Dec 30, 2023
35b0c91
Merge branch 'neuro-v13' into atrt-v13
jharenza Dec 30, 2023
9cf3045
Merge branch 'atrt-v13' into pineo-v13
jharenza Dec 30, 2023
b131f24
Merge branch 'pineo-v13' into hgg-v13
jharenza Dec 30, 2023
e39b62c
erge branch 'hgg-v13' into lgg-v13
jharenza Dec 30, 2023
d3714bb
Merge branch 'lgg-v13' into nbl-v13
jharenza Dec 30, 2023
73353c8
Merge branch 'nbl-v13' into path-v13
jharenza Dec 30, 2023
254fb14
rerun
jharenza Dec 30, 2023
d600a0e
Merge branch 'path-v13' into int-v13
jharenza Dec 30, 2023
c166dc5
rerun
jharenza Dec 30, 2023
bb4a481
use match id for methyl matching
jharenza Dec 30, 2023
3b3a42a
Merge branch 'path-v13' into int-v13
jharenza Dec 30, 2023
183dcac
rerun after match id fix in path
jharenza Dec 30, 2023
1e46bd2
fix cg for DHG astrocytoma/gbm/etc
jharenza Dec 30, 2023
240e0d5
update 7316-3240 cg and harm dx
jharenza Dec 30, 2023
ebd8f52
add html
jharenza Dec 30, 2023
b2496c8
fix path free text inclusion using grepl
jharenza Dec 30, 2023
0aa5de6
add specimen list in output
jharenza Dec 30, 2023
8285717
Merge branch 'emb-v13' into chordoma-v13
jharenza Dec 30, 2023
04bf6d7
Merge branch 'chordoma-v13' into ews-v13
jharenza Dec 30, 2023
7a14c3c
Merge branch 'ews-v13' into neuro-v13
jharenza Dec 30, 2023
7e0b629
Merge branch 'neuro-v13' into atrt-v13
jharenza Dec 30, 2023
d1622ca
add PPTC samples
jharenza Dec 30, 2023
2412563
Merge branch 'atrt-v13' into pineo-v13
jharenza Dec 30, 2023
c99c38f
Merge branch 'pineo-v13' into hgg-v13
jharenza Dec 30, 2023
63fe5bd
add PPTC to combine table, was missed!
jharenza Dec 30, 2023
3d5d4b2
add EGFR to alterations
jharenza Dec 31, 2023
3a105f6
Merge branch 'hgg-v13' into lgg-v13
jharenza Dec 31, 2023
bf8e8e2
Merge branch 'lgg-v13' into nbl-v13
jharenza Dec 31, 2023
9d05044
Merge branch 'nbl-v13' into path-v13
jharenza Dec 31, 2023
dc3ee4c
rerun
jharenza Dec 31, 2023
e7f531f
Merge branch 'path-v13' into int-v13
jharenza Dec 31, 2023
10f46f6
fix chordoma subtypes adding TBC
jharenza Dec 31, 2023
4a39283
update BS_Q2R56X78, BS_QV60J6XZ, BS_3DV5FVPQ as K28 mut or altered ba…
jharenza Dec 31, 2023
b4afd07
Merge branch 'path-v13' into int-v13
jharenza Dec 31, 2023
1f9b2fe
fix chordoma typo
jharenza Dec 31, 2023
5f4ad65
Merge branch 'path-v13' into int-v13
jharenza Dec 31, 2023
f818d51
rerun
jharenza Dec 31, 2023
760b884
fix NA cancer groups
jharenza Dec 31, 2023
16c720b
oops, add back other cgs
jharenza Dec 31, 2023
7c6b1db
fix a few more NA, add subtype count table
jharenza Dec 31, 2023
ee84c11
Independent samples v13
jharenza Dec 31, 2023
4840991
add chordoma loss samples
jharenza Dec 31, 2023
0ca563d
run for v13
jharenza Dec 31, 2023
bfb15d5
fix appending rnaseq files, chordoma, and add new samples for non gatk
jharenza Dec 31, 2023
f20a6ac
rerun
jharenza Dec 31, 2023
010ce50
fix typo
jharenza Dec 31, 2023
f525195
add embryonal samples
jharenza Jan 1, 2024
3fe6c7b
change read_rds to readRDS
jharenza Jan 1, 2024
ac8c778
test changing perm of rds file
jharenza Jan 1, 2024
5e083b3
change back to results dir, add gitignore
jharenza Jan 1, 2024
545f744
remove turn off subset data option, dir back to scratch, rm gitignore
jharenza Jan 1, 2024
bd1c001
use match_id
jharenza Jan 2, 2024
fe919a2
Merge branch 'indep2-v13' into subset-v13
jharenza Jan 2, 2024
f7dd28f
Merge pull request #531 from d3b-center/subset-v13
jharenza Jan 2, 2024
e5e71c8
Merge pull request #530 from d3b-center/indep2-v13
jharenza Jan 2, 2024
0ac88a3
Merge pull request #529 from d3b-center/int-v13
zzgeng Jan 2, 2024
73a982b
Merge pull request #528 from d3b-center/path-v13
zzgeng Jan 2, 2024
6839173
Merge pull request #527 from d3b-center/nbl-v13
zzgeng Jan 2, 2024
9380798
Merge pull request #526 from d3b-center/lgg-v13
zzgeng Jan 2, 2024
32fb140
Merge pull request #525 from d3b-center/hgg-v13
zzgeng Jan 2, 2024
d0b717c
Merge pull request #524 from d3b-center/pineo-v13
zzgeng Jan 2, 2024
7981a3e
Merge pull request #523 from d3b-center/atrt-v13
zzgeng Jan 2, 2024
110f096
Merge pull request #522 from d3b-center/neuro-v13
zzgeng Jan 2, 2024
398d223
Merge pull request #521 from d3b-center/ews-v13
zzgeng Jan 2, 2024
2bb49a6
Merge pull request #520 from d3b-center/chordoma-v13
jharenza Jan 2, 2024
1a414a7
Merge pull request #519 from d3b-center/emb-v13
jharenza Jan 2, 2024
f631287
Merge pull request #518 from d3b-center/epn-v13
jharenza Jan 2, 2024
7dd8b64
Merge pull request #517 from d3b-center/mb-v13
jharenza Jan 3, 2024
454737a
rerun HGG, fixing PXA and hope snv maf bugs
jharenza Jan 3, 2024
b2bfef0
rerun path, int, update BS_H1XPVS9A for osissue 490
jharenza Jan 3, 2024
5c5896c
rerun path, int, update BS_H1XPVS9A for osissue 490
jharenza Jan 3, 2024
565d82f
Merge branch 'tp53-v13' of github.com:d3b-center/OpenPedCan-analysis …
jharenza Jan 3, 2024
0ff3e10
Merge pull request #516 from d3b-center/tp53-v13
jharenza Jan 3, 2024
1b5f3df
Merge pull request #515 from d3b-center/gsea-v13
jharenza Jan 3, 2024
0a4ef28
Merge pull request #514 from d3b-center/tmb-v13
jharenza Jan 3, 2024
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8 changes: 4 additions & 4 deletions analyses/fusion-summary/01-fusion-summary.Rmd
Original file line number Diff line number Diff line change
Expand Up @@ -62,10 +62,10 @@ prepareOutput <- function(fuseDF, bioid) {
fuseDF %>%
# some fusions have in-frame and frameshift fusion calls for a sample
# this will make unique fusionName and Sample dataset to get 1/0 values
dplyr::select(Sample,FusionName) %>%
unique() %>%
reshape2::dcast(Sample ~ FusionName,fun.aggregate = length) %>%
right_join(data.frame(Sample = bioid)) %>%
distinct(Sample, FusionName) %>%
mutate(Count = 1) %>%
pivot_wider(names_from = FusionName, values_from = Count, values_fill = list(Count = 0)) %>%
right_join(data.frame(Sample = specimensUnion)) %>%
replace(is.na(.), 0) %>%
rename(Kids_First_Biospecimen_ID = Sample)
}
Expand Down
50 changes: 23 additions & 27 deletions analyses/fusion-summary/01-fusion-summary.nb.html
Original file line number Diff line number Diff line change
Expand Up @@ -1767,14 +1767,14 @@ <h3>Libraries and functions</h3>
<!-- rnb-source-begin eyJkYXRhIjoibGlicmFyeSh0aWR5dmVyc2UpIn0= -->
<pre class="r"><code>library(tidyverse)</code></pre>
<!-- rnb-source-end -->
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<pre><code>── Attaching core tidyverse packages ───────────────────────────────────────────────────────────────────────────── tidyverse 2.0.0 ──
<!-- rnb-message-begin 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 -->
<pre><code>── Attaching core tidyverse packages ───────────────────────────────────────── tidyverse 2.0.0 ──
✔ dplyr 1.1.1 ✔ readr 2.1.4
✔ forcats 1.0.0 ✔ stringr 1.5.0
✔ ggplot2 3.4.2 ✔ tibble 3.2.1
✔ lubridate 1.9.2 ✔ tidyr 1.3.0
✔ purrr 1.0.1
── Conflicts ─────────────────────────────────────────────────────────────────────────────────────────────── tidyverse_conflicts() ──
── Conflicts ─────────────────────────────────────────────────────────── tidyverse_conflicts() ──
✖ dplyr::filter() masks stats::filter()
✖ dplyr::lag() masks stats::lag()
ℹ Use the conflicted package (&lt;http://conflicted.r-lib.org/&gt;) to force all conflicts to become errors</code></pre>
Expand Down Expand Up @@ -1852,18 +1852,13 @@ <h3>Read in data</h3>
#&#39; file but have been assayed - we will gather those from the histology file
hist &lt;- read_tsv(file.path(dataDir, &quot;histologies-base.tsv&quot;))</code></pre>
<!-- rnb-source-end -->
<!-- rnb-warning-begin eyJkYXRhIjoiV2FybmluZzogT25lIG9yIG1vcmUgcGFyc2luZyBpc3N1ZXMsIGNhbGwgYHByb2JsZW1zKClgIG9uIHlvdXIgZGF0YSBmcmFtZSBmb3IgZGV0YWlscywgZS5nLjpcbiAgZGF0IDwtIHZyb29tKC4uLilcbiAgcHJvYmxlbXMoZGF0KVxuIn0= -->
<pre><code>Warning: One or more parsing issues, call `problems()` on your data frame for details, e.g.:
dat &lt;- vroom(...)
problems(dat)</code></pre>
<!-- rnb-warning-end -->
<!-- rnb-message-begin eyJkYXRhIjoiUm93czogNDM3MjkgQ29sdW1uczogNTNcbuKUgOKUgCBDb2x1bW4gc3BlY2lmaWNhdGlvbiDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIBcbkRlbGltaXRlcjogXCJcXHRcIlxuY2hyICgzNCk6IEtpZHNfRmlyc3RfQmlvc3BlY2ltZW5fSUQsIHNhbXBsZV9pZCwgYWxpcXVvdF9pZCwgS2lkc19GaXJzdF9QYXJ0aS4uLlxuZGJsICgxNyk6IGFnZV9hdF9kaWFnbm9zaXNfZGF5cywgT1NfZGF5cywgRUZTX2RheXMsIGFnZV9sYXN0X3VwZGF0ZV9kYXlzLCBuby4uLlxubGdsICAoMik6IGludGVncmF0ZWRfZGlhZ25vc2lzLCBtb2xlY3VsYXJfc3VidHlwZVxuXG7ihLkgVXNlIGBzcGVjKClgIHRvIHJldHJpZXZlIHRoZSBmdWxsIGNvbHVtbiBzcGVjaWZpY2F0aW9uIGZvciB0aGlzIGRhdGEuXG7ihLkgU3BlY2lmeSB0aGUgY29sdW1uIHR5cGVzIG9yIHNldCBgc2hvd19jb2xfdHlwZXMgPSBGQUxTRWAgdG8gcXVpZXQgdGhpcyBtZXNzYWdlLlxuIn0= -->
<pre><code>Rows: 43729 Columns: 53
── Column specification ─────────────────────────────────────────────────────────────────────────────────────────────────────────────
<!-- rnb-message-begin eyJkYXRhIjoiUm93czogNDc1MDcgQ29sdW1uczogNTZcbuKUgOKUgCBDb2x1bW4gc3BlY2lmaWNhdGlvbiDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIDilIBcbkRlbGltaXRlcjogXCJcXHRcIlxuY2hyICgzNyk6IEtpZHNfRmlyc3RfUGFydGljaXBhbnRfSUQsIEtpZHNfRmlyc3RfQmlvc3BlY2ltZW5fSUQsIHNhbXBsZV9pZCwgYS4uLlxuZGJsICgxNyk6IGNlbGxfbGluZV9wYXNzYWdlLCBPU19kYXlzLCBFRlNfZGF5cywgYWdlX2F0X2RpYWdub3Npc19kYXlzLCBhZ2VfYS4uLlxubGdsICAoMik6IG1vbGVjdWxhcl9zdWJ0eXBlLCBpbnRlZ3JhdGVkX2RpYWdub3Npc1xuXG7ihLkgVXNlIGBzcGVjKClgIHRvIHJldHJpZXZlIHRoZSBmdWxsIGNvbHVtbiBzcGVjaWZpY2F0aW9uIGZvciB0aGlzIGRhdGEuXG7ihLkgU3BlY2lmeSB0aGUgY29sdW1uIHR5cGVzIG9yIHNldCBgc2hvd19jb2xfdHlwZXMgPSBGQUxTRWAgdG8gcXVpZXQgdGhpcyBtZXNzYWdlLlxuIn0= -->
<pre><code>Rows: 47507 Columns: 56
── Column specification ─────────────────────────────────────────────────────────────────────────
Delimiter: &quot;\t&quot;
chr (34): Kids_First_Biospecimen_ID, sample_id, aliquot_id, Kids_First_Parti...
dbl (17): age_at_diagnosis_days, OS_days, EFS_days, age_last_update_days, no...
lgl (2): integrated_diagnosis, molecular_subtype
chr (37): Kids_First_Participant_ID, Kids_First_Biospecimen_ID, sample_id, a...
dbl (17): cell_line_passage, OS_days, EFS_days, age_at_diagnosis_days, age_a...
lgl (2): molecular_subtype, integrated_diagnosis

ℹ Use `spec()` to retrieve the full column specification for this data.
ℹ Specify the column types or set `show_col_types = FALSE` to quiet this message.</code></pre>
Expand All @@ -1878,9 +1873,9 @@ <h3>Read in data</h3>
read_tsv(file.path(dataDir, &quot;fusion-putative-oncogenic.tsv&quot;))
}</code></pre>
<!-- rnb-source-end -->
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<pre><code>Rows: 55260 Columns: 22
── Column specification ─────────────────────────────────────────────────────────────────────────────────────────────────────────────
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<pre><code>Rows: 81348 Columns: 22
── Column specification ─────────────────────────────────────────────────────────────────────────
Delimiter: &quot;\t&quot;
chr (20): Sample, FusionName, LeftBreakpoint, RightBreakpoint, DomainRetaine...
dbl (1): caller.count
Expand All @@ -1900,13 +1895,13 @@ <h3>Read in DGD and arrange as fusion filtering df</h3>
<pre class="r"><code># read in DGD data
dgd_fusion &lt;- readr::read_tsv(file.path(dataDir, &quot;fusion-dgd.tsv.gz&quot;))</code></pre>
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<pre><code>Rows: 278 Columns: 17
── Column specification ─────────────────────────────────────────────────────────────────────────────────────────────────────────────
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<pre><code>Rows: 533 Columns: 22
── Column specification ─────────────────────────────────────────────────────────────────────────
Delimiter: &quot;\t&quot;
chr (9): Sample, FusionName, Fusion_Type, Gene1A, Gene1B, annots, Gene1A_ann...
dbl (2): JunctionReadCount, SpanningFragCount
lgl (6): Gene2A, Gene2B, LeftBreakpoint, RightBreakpoint, Gene2A_anno, Gene2...
chr (14): Sample, FusionName, Fusion_Type, Gene1A, Gene1B, 5_prime_transcrip...
dbl (2): JunctionReadCount, SpanningFragCount
lgl (6): Gene2A, Gene2B, LeftBreakpoint, RightBreakpoint, Gene2A_anno, Gene...

ℹ Use `spec()` to retrieve the full column specification for this data.
ℹ Specify the column types or set `show_col_types = FALSE` to quiet this message.</code></pre>
Expand Down Expand Up @@ -2209,10 +2204,10 @@ <h4>Perform selection for LGG and HGG fusions</h4>
# Check they don&#39;t retain the kinase domain. They do not, so leave out.
table(three_prime_kinase_outframe$DomainRetainedGene1B)</code></pre>
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<pre><code>
No Yes
22 148 </code></pre>
35 197 </code></pre>
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Expand Down Expand Up @@ -2252,11 +2247,12 @@ <h4>Perform selection for LGG and HGG fusions</h4>
select(Sample, FusionName = five_prime_kinase) %&gt;%
distinct()</code></pre>
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<pre><code>Warning in left_join(., allFuseLGGHGG, by = c(&quot;Sample&quot;, &quot;FusionName&quot;)): Detected an unexpected many-to-many relationship between `x` and `y`.
ℹ Row 4 of `x` matches multiple rows in `y`.
ℹ Row 1 of `y` matches multiple rows in `x`.
ℹ If a many-to-many relationship is expected, set `relationship = &quot;many-to-many&quot;` to silence this warning.</code></pre>
ℹ If a many-to-many relationship is expected, set `relationship = &quot;many-to-many&quot;` to silence
this warning.</code></pre>
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Expand Down
4 changes: 2 additions & 2 deletions analyses/fusion-summary/README.md
Original file line number Diff line number Diff line change
Expand Up @@ -2,14 +2,14 @@

This module generates summary files for fusions of interest present in biospecimens taken from:

1. Ependymoma tumors
1. Ependymoma tumors
2. Embryonal tumors not from ATRT or MB
3. CNS Ewing Sarcomas
4. LGG/HGG tumors

To generate the tables run:

```
```
bash run-new-analysis.sh
```

Expand Down
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