BOL: Related items

MitoZ: a toolkit for animal mitochondrial genome assembly, annotation and visualization

Jit — Fri, 24 Jan 2020 04:09:15 -0600

MitoZ is a Python3-based toolkit which aims to automatically filter pair-end raw data (fastq files), assemble genome, search for mitogenome sequences from the genome assembly result, annotate mitogenome (genbank file as result), and mitogenome visualization. MitoZ is available from https://github.com/linzhi2013/MitoZ.

https://academic.oup.com/nar/article/47/11/e63/5377471

Address of the bookmark: https://github.com/linzhi2013/MitoZ

EUKulele: Taxonomic annotation of the unsung eukaryotic microbes

Shruti Paniwala — Sat, 26 Dec 2020 12:10:17 -0600

EUKulele, an open-source software tool designed to assign taxonomy to microeukaryotes detected in meta-omic samples, and complement analysis approaches in other domains by accommodating assembly output and providing concrete metrics reporting the taxonomic completeness of each sample.

Address of the bookmark: https://github.com/AlexanderLabWHOI/EUKulele

MitoZ: a toolkit for animal mitochondrial genome assembly, annotation and visualization

Neel — Tue, 30 Nov 2021 23:23:57 -0600

MitoZ, consisting of independent modules of de novo assembly, findMitoScaf (find Mitochondrial Scaffolds), annotation and visualization, that can generate mitogenome assembly together with annotation and visualization results from HTS raw reads.

https://academic.oup.com/nar/article/47/11/e63/5377471

Address of the bookmark: https://github.com/linzhi2013/MitoZ

EWAS: epigenome-wide association study software 2.0

Jit — Wed, 21 Mar 2018 18:14:00 -0500

EWAS2.0 can analyze EWAS data and identify the association between epigenetic variations and disease/phenotype. On the basis of EWAS1.0, we have added more distinctive features. EWAS2.0 software was developed based on our “population epigenetic framework” and can perform: (1) epigenome-wide single marker association study; (2) epigenome-wide methylation haplotype (meplotype) association study; and (3) epigenome-wide association meta-analysis.

Address of the bookmark: http://www.bioapp.org/ewas/

PolyPhen-2: Prediction of functional effects of human nsSNPs

Anjana — Mon, 23 May 2016 02:27:25 -0500

PolyPhen-2 (Polymorphism Phenotyping v2) is a tool which predicts possible impact of an amino acid substitution on the structure and function of a human protein using straightforward physical and comparative considerations.

Address of the bookmark: http://genetics.bwh.harvard.edu/pph2/

HGTector: an automated method facilitating genome-wide discovery of putative horizontal gene transfers

Jit — Mon, 21 Jan 2019 06:50:05 -0600

A computational pipeline for genome-wide detection of putative horizontal gene transfer (HGT) events based on sequence homology search hit distribution statistics

Authors: Qiyun Zhu (qiyunzhu@gmail.com), Katharina Dittmar (katharinad@gmail.com)

Affiliation: Department of Biological Sciences, University at Buffalo, State University of New York, Buffalo, USA

Zhu Q, Kosoy M, Dittmar K. HGTector: an automated method facilitating genome-wide discovery of putative horizontal gene transfers. BMC Genomics. 2014. 15:717.

Usage: Simply execute perl HGTector.pl, or, open GUI.html in a web browser to see a step-by-step wizard.

Download HGTector 0.2.2.

Address of the bookmark: https://github.com/DittmarLab/HGTector

RNA Sequencing Helps Identify Functional Variants from GWAS

Andaleeb — Fri, 22 Nov 2013 21:33:33 -0600

For Alzheimer’s and other complex disorders, mining the genome for disease-associated variants is no longer the obstacle. The challenge nowadays is figuring out how the identified loci relate to disease. As reported last month in Nature and its associated journals, advances in high-throughput RNA sequencing are providing new tools for understanding how disease loci influence gene expression—a starting point for understanding their connection to pathogenesis.

Address of the bookmark: http://schizophreniaforum.org/new/detail.asp?id=1953

CAUSEL: an epigenome- and genome-editing pipeline for establishing function of noncoding GWAS variants

BioJoker — Tue, 09 Apr 2019 07:23:37 -0500

Validated a widely accessible approach that can be used to establish functional causality for noncoding sequence variants identified by GWASs.

https://www.nature.com/articles/nm.3975

Address of the bookmark: https://www.nature.com/articles/nm.3975

Magic-BLAST: a tool for mapping large next-generation RNA or DNA sequencing runs against a whole genome or transcriptome.

Jit — Tue, 26 Dec 2017 22:23:39 -0600

Magic-BLAST is a tool for mapping large next-generation RNA or DNA sequencing runs against a whole genome or transcriptome. Each alignment optimizes a composite score, taking into account simultaneously the two reads of a pair, and in case of RNA-seq, locating the candidate introns and adding up the score of all exons. This is very different from other versions of BLAST, where each exon is scored as a separate hit and read-pairing is ignored.

Magic-BLAST incorporates within the NCBI BLAST code framework ideas developed in the NCBI Magic pipeline, in particular hit extensions by local walk and jump (http://www.ncbi.nlm.nih.gov/pubmed/26109056), and recursive clipping of mismatches near the edges of the reads, which avoids accumulating artefactual mismatches near splice sites and is needed to distinguish short indels from substitutions near the edges.

Address of the bookmark: https://ncbi.github.io/magicblast/

Breakpointer: using local mapping artifacts to support sequence breakpoint discovery from single-end reads

Jit — Tue, 12 Jun 2018 12:41:10 -0500

Breakpointer is a fast tool for locating sequence breakpoints from the alignment of single end reads (SE) produced by next generation sequencing (NGS). It adopts a heuristic method in searching for local mapping signatures created by insertion/deletions (indels) or more complex structural variants(SVs).

Address of the bookmark: https://github.com/ruping/Breakpointer