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Updated analysis: CNV deep deletions #1099

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kgaonkar6 opened this issue Jun 17, 2021 · 1 comment
Closed

Updated analysis: CNV deep deletions #1099

kgaonkar6 opened this issue Jun 17, 2021 · 1 comment

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@kgaonkar6
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kgaonkar6 commented Jun 17, 2021

What analysis module should be updated and why?

update focal-cn-file-preparation
and
rerun ocnoprint-landscape

What changes need to be made? Please provide enough detail for another participant to make the update.

Change:

# Merge and annotated no X&Y
autosome_annotated_cn <- process_annotate_overlaps(cnv_df = cnv_no_xy,
txdb_exons = tx_exons) %>%
# mark possible amplifications in autosomes
dplyr::mutate(status = dplyr::case_when(
copy_number > (2 * ploidy) ~ "amplification",
TRUE ~ status
))

To:


# Merge and annotated no X&Y
autosome_annotated_cn <- process_annotate_overlaps(cnv_df = cnv_no_xy,
                                                   txdb_exons = tx_exons) %>%
  # mark possible amplifications and deep loss in autosomes
  dplyr::mutate(status = dplyr::case_when(
    copy_number > (2 * ploidy) ~ "amplification",
    copy_number == 0  ~ "deep loss",
    TRUE ~ status
  ))

Change:

# Merge and annotated no X&Y
sex_chrom_annotated_cn <- process_annotate_overlaps(cnv_df = cnv_sex_chrom,
txdb_exons = tx_exons)

To:

  sex_chrom_annotated_cn <- process_annotate_overlaps(cnv_df = cnv_sex_chrom,
                                                      txdb_exons = tx_exons) %>%
  # mark possible deep loss in sex chromosome
  dplyr::mutate(status = case_when(
    copy_number == 0  ~ "deep loss",
   TRUE ~ status
  ))

What input data should be used? Which data were used in the version being updated?

pbta-cnv-consensus.seg.gz v19

When do you expect the revised analysis will be completed?

~1 day

Who will complete the updated analysis?

@kgaonkar6

cc @jharenza @jaclyn-taroni for input

@jharenza
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closed with #1101

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