STUDY_CANCER_GENES

Detail of Cancer Gene Census can be accessed and read at
https://cancer.sanger.ac.uk/census

A multi-purpose and flexible k-meric enrichment analysis software.
'kmeRtone' measures the enrichment of k-mers by comparing the population of
k-mers in the case loci with a carefully devised internal negative control
group, consisting of k-mers from regions close to, yet sufficiently distant
from, the case loci to mitigate any potential sequencing bias. This method
effectively captures both the local sequencing variations and broader
sequence influences, while also correcting for potential biases, thereby
ensuring more accurate analysis. The core functionality of 'kmeRtone' is
the SCORE() function, which calculates the susceptibility scores for k-mers in
case and control regions. Case regions are defined by the genomic coordinates
provided in a file by the user and the control regions can be constructed
relative to the case regions or provided directly. The k-meric susceptibility
scores are calculated by using a one-proportion z-statistic. 'kmeRtone' is
highly flexible by allowing users to also specify their target k-mer patterns
and quantify the corresponding k-mer enrichment scores in the context of
these patterns, allowing for a more comprehensive approach to understanding
the functional implications of specific DNA sequences on a genomic scale
(e.g., CT motifs upon UV radiation damage).
Adib A. Abdullah, Patrick Pflughaupt, Claudia Feng, Aleksandr B. Sahakyan (2024) Bioinformatics (submitted).

Aleksandr B. Sahakyan

kmeRtone

Multi-Purpose and Flexible k-Meric Enrichment Analysis Software

Adib Abdullah

Patrick Pflughaupt

Aleksandr Sahakyan

STUDY_CANCER_GENES function

<dl><dt>cosmic.username</dt>
<dd>COSMIC username i.e. registered email.</dd>
<dt>cosmic.password</dt>
<dd>COSMIC password.</dd>
<dt>tumour.type.regex</dt>
<dd>Regular expression for "Tumour Types" column in
Cancer Gene Census table. Default is NULL.</dd>
<dt>tumour.type.exact</dt>
<dd>Exact keywords for "Tumour Types" column in
Cancer Gene Census table. Default is NULL.</dd>
<dt>cell.type</dt>
<dd>Type of cell: "somatic" or "germline". Default is "somatic".</dd>
<dt>genic.elements.counts.dt</dt>
<dd>Genic element count table generated from
STUDY_GENIC_ELEMENTS.</dd>
<dt>output.dir</dt>
<dd>A directory for the outputs.</dd></dl>

Arguments

Study k-mer composition of causal cancer genes from COSMIC Cancer Gene
Census (CGC) database. — STUDY_CANCER_GENES

<dl>

<dt>cosmic.username</dt>
<dd>COSMIC username i.e. registered email.</dd>


<dt>cosmic.password</dt>
<dd>COSMIC password.</dd>


<dt>tumour.type.regex</dt>
<dd>Regular expression for "Tumour Types" column in
Cancer Gene Census table. Default is NULL.</dd>


<dt>tumour.type.exact</dt>
<dd>Exact keywords for "Tumour Types" column in
Cancer Gene Census table. Default is NULL.</dd>


<dt>cell.type</dt>
<dd>Type of cell: "somatic" or "germline". Default is "somatic".</dd>


<dt>genic.elements.counts.dt</dt>
<dd>Genic element count table generated from
STUDY_GENIC_ELEMENTS.</dd>


<dt>output.dir</dt>
<dd>A directory for the outputs.</dd>

</dl>

STUDY_CANCER_GENES: Study k-mer composition of causal cancer genes from COSMIC Cancer Gene Census (CGC) database.

Description

Usage

Value

Arguments