BOL: Related items

Variant Calling Resequencing-Based Genome Inference

Abhi — Wed, 31 Jul 2024 02:02:24 -0500

Variant Calling - Resequencing-Based Genome Inference

Erik Garrison
University of Tennessee Health Science Center
Workshop on Genomics - Český Krumlov
January 12, 2024

https://evomics.org/wp-content/uploads/2024/01/Variant-calling-Workshop-on-Genomics-2024-Cesky-Krumlov.pdf

Address of the bookmark: https://evomics.org/wp-content/uploads/2024/01/Variant-calling-Workshop-on-Genomics-2024-Cesky-Krumlov.pdf

Snippy: Rapid haploid variant calling and core SNP phylogeny

Neel — Sat, 11 Aug 2018 11:06:56 -0500

Snippy finds SNPs between a haploid reference genome and your NGS sequence reads. It will find both substitutions (snps) and insertions/deletions (indels). It will use as many CPUs as you can give it on a single computer (tested to 64 cores). It is designed with speed in mind, and produces a consistent set of output files in a single folder. It can then take a set of Snippy results using the same reference and generate a core SNP alignment (and ultimately a phylogenomic tree).

snippy --cpus 16 --outdir mysnps --ref Listeria.gbk --R1 FDA_R1.fastq.gz --R2 FDA_R2.fastq.gz

Address of the bookmark: https://github.com/tseemann/snippy

VG: variation graph data structures, interchange formats, alignment, genotyping, and variant calling methods

Jit — Tue, 28 Jan 2020 03:53:24 -0600

Variation graphs provide a succinct encoding of the sequences of many genomes. A variation graph (in particular as implemented in vg) is composed of:

nodes, which are labeled by sequences and ids
edges, which connect two nodes via either of their respective ends
paths, describe genomes, sequence alignments, and annotations (such as gene models and transcripts) as walks through nodes connected by edges

Address of the bookmark: https://github.com/vgteam/vg

maftools

Surabhi Chaudhary — Fri, 17 Dec 2021 03:18:28 -0600

With advances in Cancer Genomics, Mutation Annotation Format (MAF) is being widely accepted and used to store somatic variants detected. The Cancer Genome Atlas Project has sequenced over 30 different cancers with sample size of each cancer type being over 200. Resulting data consisting of somatic variants are stored in the form of Mutation Annotation Format. This package attempts to summarize, analyze, annotate and visualize MAF files in an efficient manner from either TCGA sources or any in-house studies as long as the data is in MAF format.

https://www.bioconductor.org/packages/devel/bioc/vignettes/maftools/inst/doc/maftools.html

Address of the bookmark: https://github.com/PoisonAlien/maftools

Comparative genomics scripts

Jit — Wed, 06 Dec 2017 15:20:45 -0600

Comparative genomics educational material and papers bookmarks

https://github.com/iansealy/coursera-comparinggenomes

Address of the bookmark: https://github.com/iansealy/coursera-comparinggenomes

Synteny and Rearrangement Identifier (SyRI)

Jit — Tue, 05 May 2020 10:37:10 -0500

SyRI is a comprehensive tool for predicting genomic differences between related genomes using whole-genome assemblies (WGA). The assemblies are aligned using whole-genome alignment tools, and these alignments are then used as input to SyRI. SyRI identifies syntenic path (longest set of co-linear regions), structural rearrangements (inversions, translocations, and duplications), local variations (SNPs, indels, CNVs etc) within syntenic and structural rearrangements, and un-aligned regions.

Address of the bookmark: https://schneebergerlab.github.io/syri/

Cáceres Lab

Sat, 02 Oct 2021 00:20:42 -0500

Lab are included within the Genomics, Bioinformatics and Evolution group of the UAB, and collaborate closely with other researchers in the Barcelona area, such as Xavier Estivill of the Centre for Genomic Regulation (CRG), Juan R González of the Centre for Research in Environmental Epidemiology (CREAL), and Tomàs Marqués-Bonet of the Institute of Evolutionary Biology (IBE), as well as with other international groups and projects.

https://grupsderecerca.uab.cat/cacereslab/

Postdoc at UBasel Comparative Single Cell Genomics

Fri, 13 Dec 2024 12:46:19 -0600

A fully funded 4-year Postdoc position is available in the lab of Patrick
Tschopp at the University of Basel, Switzerland, study the molecular and
tissue-scale dynamics during the embryonic formation of the vertebrate
skeleton and compare it across different vertebrate species with distinct
habitats.

We are looking for a highly motivated candidate with a PhD degree in
Bioinformatics or a related field. Candidates are expected to have a
strong background in evolutionary biology and/or comparative functional
genomics. Additional experiences in single cell functional genomics
analyses, statistics and computational data analyses are a plus, as is
an interest in comparative developmental (EvoDevo) questions.

We offer a dynamic and interactive research environment with state-of-the
art research facilities, good research funding and internationally
competitive salaries.

The Tschopp lab (www.evolution.unibas.ch/tschopp/research/)
studies the gene regulatory mechanisms of cell type
specification and evolution in vertebrates. See also our
preprints at https://doi.org/10.1101/2024.03.26.586769 and
https://doi.org/10.1101/2024.11.28.625862 Applications should include
a motivation letter, a CV, a list of publications, a statement about
research interests, as well as the names and contact details of at
least two referees. Applications (in the form of a single .pdf file)
should be sent to Patrick Tschopp (patrick.tschopp@unibas.ch); review
of applications will begin on January 1st 2025, and will continue until
the position is filled.

kraken: A universal genomic coordinate translator for comparative genomics

Jit — Thu, 07 Dec 2017 04:45:43 -0600

If you planning on conducting a study involving dozens of large genomes, then you do not have to run all pairwise synteny alignments .. simply try kraken: A universal genomic coordinate translator for comparative genomics

Address of the bookmark: https://github.com/nedaz/kraken

Bourque Lab

Mon, 14 Jan 2019 15:39:25 -0600

The goal of the lab is to understand mammalian genomes using comparative genomic and epigenomic analyses. Areas of interest include: the evolution of regulatory sequences, the role of transposable elements in gene regulation and the impact of genome rearrangements in evolution and cancer.

As a computational genomicists our work involves examining billions of DNA base pairs and interpreting how variation impacts basic biology and disease. We develop computational methods and resources for the functional annotation of genomes with a special emphasis on sequencing-based assays (e.g. ChIP-seq, RNA-Seq, exome- and whole-genome sequencing, single-cell analysis).

http://www.computationalgenomics.ca