Transcript annotation tool (TransAT): an R package for retrieving annotations for transcript-specific genetic variants
نویسندگان
چکیده
منابع مشابه
Creating and retrieving tense and aspect annotations with GraphAnno, a lightweight tool for multi-level annotation
In this paper, we propose an annotation scheme for the manual annotation of tense and aspect in natural language corpora, as well as an implementation using GraphAnno, a configurable tool for manual multilevel annotation. The annotation scheme is based on Klein’s (1994) theory of tense and aspect, arguably the most widely accepted theory in this domain (cf. also Klein and Li 2009). One of the m...
متن کاملSex-Specific Transcript Splicing
Sex-lethal ( Sxl) gene products induce female development in Drosophila melanogaster and suppress the transcriptional hyperactivation of X-linked genes responsible for male X-chromosome dosage compensation. Control of Sxl functioning by the dose of X-chromosomes normally ensures that the female-specific functions of this developmental switch gene are only expressed in diplex individuals. Althou...
متن کامل: an R package for querying web - based annotation
We developed , an R package for querying web based genome haploR annotation tools HaploReg and RegulomeDB. gathers information in a haploR data frame which is suitable for downstream bioinformatic analyses. This will facilitate post-genome wide association studies streamline analysis for rapid discovery and interpretation of genetic associations. This article is included in the gateway. RPac...
متن کاملhaploR: an R package for querying web-based annotation tools
We developed haploR, an R package for querying web based genome annotation tools HaploReg and RegulomeDB. haploR gathers information in a data frame which is suitable for downstream bioinformatic analyses. This will facilitate post-genome wide association studies streamline analysis for rapid discovery and interpretation of genetic associations.
متن کاملhaploR: an R-package for querying web-based annotation tools
There exists a set of web-based tools for integration and exploring information linked to annotated genetic variants. We developed , an R-package for haploR querying such web-based genome annotation tools (currently implementing on HaploReg and RegulomeDB) and gathering information in a format suitable for downstream bioinformatic analyses. This will facilitate post-genome wide association stu...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: BMC Bioinformatics
سال: 2021
ISSN: 1471-2105
DOI: 10.1186/s12859-021-04243-z