getEnsemblVariantFeatures

Function retrieves features for given variant IDs from the Ensembl
database. It handles requests asynchronously in batches due to server limits
and includes options to fetch additional variant information. Error handling
for different HTTP response statuses is implemented to manage request failures.

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

getEnsemblVariantFeatures function

<dl><dt>species</dt>
<dd>Species name or alias (e.g., homo_sapiens, human).</dd>
<dt>variant.ids</dt>
<dd>A vector of variant IDs (e.g., rs56116432, COSM476).</dd>
<dt>include.genotypes</dt>
<dd>Include genotypes in the response? Default FALSE.</dd>
<dt>include.phenotypes</dt>
<dd>Include phenotypes in the response? Default FALSE.</dd>
<dt>include.allele.frequencies</dt>
<dd>Include allele frequencies? Default FALSE.</dd>
<dt>include.genotype.frequencies</dt>
<dd>Include genotype frequencies? Default FALSE.</dd>
<dt>curl.max.con</dt>
<dd>Maximum number of concurrent connections for curl requests.
Default is 100.</dd>
<dt>verbose</dt>
<dd>Verbosity level: 1 for error only, 2 for all requests. Default 1.</dd></dl>

Arguments

Get features of given variant IDs. — getEnsemblVariantFeatures

<dl>

<dt>species</dt>
<dd>Species name or alias (e.g., homo_sapiens, human).</dd>


<dt>variant.ids</dt>
<dd>A vector of variant IDs (e.g., rs56116432, COSM476).</dd>


<dt>include.genotypes</dt>
<dd>Include genotypes in the response? Default FALSE.</dd>


<dt>include.phenotypes</dt>
<dd>Include phenotypes in the response? Default FALSE.</dd>


<dt>include.allele.frequencies</dt>
<dd>Include allele frequencies? Default FALSE.</dd>


<dt>include.genotype.frequencies</dt>
<dd>Include genotype frequencies? Default FALSE.</dd>


<dt>curl.max.con</dt>
<dd>Maximum number of concurrent connections for curl requests.
Default is 100.</dd>


<dt>verbose</dt>
<dd>Verbosity level: 1 for error only, 2 for all requests. Default 1.</dd>

</dl>

getEnsemblVariantFeatures: Get features of given variant IDs.

Description

Usage

Value

Arguments