BOL: Related items

Severus: a somatic structural variation (SV) caller for long reads

LEGE — Sun, 31 Mar 2024 02:41:27 -0500

Severus is a somatic structural variation (SV) caller for long reads (both PacBio and ONT). It is designed for matching tumor/normal analysis, supports multiple tumor samples, and produces accurate and complete somatic and germline calls. Severus takes advantage of long-read phasing and uses the breakpoint graph framework to model complex chromosomal rearrangements.

If you use Severus, please cite https://www.medrxiv.org/content/10.1101/2024.03.22.24304756v1

Address of the bookmark: https://github.com/KolmogorovLab/Severus

Genome STRiP

Neel — Tue, 06 Sep 2016 03:58:19 -0500

Genome STRiP (Genome STRucture In Populations) is a suite of tools for discovering and genotyping structural variations using sequencing data. The methods are designed to detect shared variation using data from multiple individuals.

Genome STRiP looks both across and within a set of sequenced genomes to detect variation. The methods are adaptive and support heterogeneous data sets, including variations in sequencing depth, read lengths and mixtures of paired and single-end reads. A minimum of 20 to 30 genomes are required to get acceptable results, but the method gains power across genomes and processing more genomes provide better results.

To run discovery or genotyping on a single sequenced genome or a small set of genomes, you need to call your data against a background population, such as a set of genomes from the 1000 Genomes Project. The background population does not need to be matched to the target individuals.

Address of the bookmark: http://software.broadinstitute.org/software/genomestrip/

Software and Tools to detect structure variation with long reads !!

Archana Malhotra — Wed, 15 Mar 2017 14:31:09 -0500

Uncovering the connection between genetics and heritable diseases requires an approach that looks at all the variant bases and types in a genome. While a PacBio de novo assembly resolves the most novel SV variants. 8-10X PacBio coverage of single genomes or trios reveals triple the SVs detectable by short-read data.

With Single Molecule, Real-Time (SMRT) Sequencing, you can access structural variations having a broad range of sizes, types, and GC content with the ability to:

Uncover missing heritability linked to structural variation
Unambiguously identify genomic context and variant breakpoints at the sequence level to unravel the genetic etiology of disease
Resolve structural variation across the complete size spectrum with basepair resolution

Following are the SV tools, which can assist you to achieve your goal.

Sniffles: Structural variation caller using third generation sequencing

Sniffles is a structural variation caller using third generation sequencing (PacBio or Oxford Nanopore). It detects all types of SVs using evidence from split-read alignments, high-mismatch regions, and coverage analysis. Please note the current version of Sniffles requires sorted output from BWA-MEM (use -M and -x parameter) or NGM-LR with the optional SAM attributes enabled!

More at https://github.com/fritzsedlazeck/Sniffles

MultiBreak-SV: It identifies structural variants from next-generation paired end data, third-generation long read data, or data from a combination of sequencing platforms.

There are two pieces of software in this release: (1) a pre-processor that takes machineformat (.m5) BLASR files, and (2) MultiBreak-SV. For installation and usage instructions, see doc/MultiBreakSV-Manual.txt.

More at https://github.com/raphael-group/multibreak-sv

Parliament: A Structural Variation Tool. Why ask a single sv-detection approach to find every variant when you can have a parliament of tools deciding?

Publication about the algorithm and “…the first long-read characterization of structural variation in a diploid human personal genome…” (HS1011) - “Assessing structural variation in a personal genome—towards a human reference diploid genome”

More at https://sourceforge.net/projects/parliamentsv/

https://www.dnanexus.com/papers/Parliament_Info_Sheet.pdf

PBHoney: the structural variation discovery tool

PBHoney is an implementation of two variant-identification approaches designed to exploit the high mappability of long reads (i.e., greater than 10,000 bp). PBHoney considers both intra-read discordance and soft-clipped tails of long reads to identify structural variants.

Read The Paper http://www.biomedcentral.com/1471-2105/15/180/abstract

More at https://sourceforge.net/projects/pb-jelly/

SMRT-SV: Structural variant and indel caller for PacBio reads

Structural variant (SV) and indel caller for PacBio reads based on methods from Chaisson et al. 2014.

SMRT-SV provides an official software package for tools described in Chaisson et al. 2014 and adds several key features including the following.

Unified variant calling user interface with built-in cluster compute support
Small indel calling (2-49 bp)
Improved inversion calling (screenInversions)
Quality metric for SV calls based on number of local assemblies supporting each call
Higher sensitivity for SV calls using tiled local assemblies across the entire genome instead of "signature" regions
Genotyping of SVs with Illumina paired-end reads from WGS samples

More at https://github.com/EichlerLab/pacbio_variant_caller

Sandelin group

Mon, 30 Sep 2013 19:12:58 -0500

Sandelin group have a deep interest in most biology, but focus on gene regulation and the many areas that are connected with this, including transcriptomics, epigenetics and technological and informatics aspects.

The group is both computational and experimental.

We ask biological questions to large datasets made using novel genomics techniques, with the help of computers. One of the strengths in the group are the many connections to high-profile experimental laboratories which supply data to be analyzed.

Lab webpage @ http://people.binf.ku.dk/albin/Sandelin_group_at_the_Bioinformatic_Centre/The_Sandelin_group.html

Liu Lab

Tue, 04 Feb 2020 06:27:02 -0600

Shirley is a computational biologist with expertise in cancer epigenetics. Her research focuses on algorithm development and integrative mining from big data generated on microarrays, massively parallel sequencing, and other high throughput techniques to model the specificity and function of transcription factors, chromatin regulators and lncRNAs in tumor development, progression, drug response and resistance.

https://liulab-dfci.github.io/software/

Genetics for Fun and Profit: Andrew Hessel at TEDxVilnius

Sun, 01 Sep 2013 19:15:06 -0500

Andrew Hessel co-chairs the Bioinformatics and Biotechnology track at the Singularity University, an institution founded by futurist Ray Kurzweil and X Prize Foundation CEO Peter Diamandis, with sponsorship from world-leading organizations that include Google, Autodesk, and NASA. He is also the founder of the Pink Army Cooperative, a venture aiming to make open source personalized cancer therapies. His work has been featured in The New York Times, Futurist Magazine, H+, and Wired News. In the spirit of ideas worth spreading, TEDx is a program of local, self-organized events that bring people together to share a TED-like experience. At a TEDx event, TEDTalks video and live speakers combine to spark deep discussion and connection in a small group. These local, self-organized events are branded TEDx, where x = independently organized TED event. The TED Conference provides general guidance for the TEDx program, but individual TEDx events are self-organized.* (*Subject to certain rules and regulations)

Graduate research assistantships @ University of Nebraska-Lincoln (UNL)

Wed, 22 Oct 2014 10:05:31 -0500

Graduate research assistantships in quantitative genetics are available with Gota Morota in the Department of Animal Science at the University of Nebraska-Lincoln (UNL).

Current projects in the Morota lab include developing kernel-based whole-genome prediction and kernel-based genome-wide association models, polygenic modeling of binary traits, reexamining the results from quantitative genetics analysis in light of functional annotation, and extending kernel methods (such as GBLUP and RKHS) specifically tailored for diverse types of emerging omics data.

In addition, candidates will be expected to leverage opportunities to interact with faculty in animal genetics and biometrics at the UNL in the areas of bioinformatics, breeding, functional genomics, quantitative genetics, and molecular genetics.

Candidates should have a B.S. or M.S. degree in quantitative disciplines with strong background and interest in statistical computing.
The starting date is Fall 2015.
For more information about research in the Morota lab at the UNL, visit: http://www.morotalab.org

A letter of interest in the position, C.V., and contact information for
three references should be emailed to Gota Morota at .
Review of applications will begin immediately, and continue until the
positions are filled. Informal inquiries are also welcome.

Also, please see: http://animalscience.unl.edu/anscprospectivegraduatestudents

Genetic code - Amino Acid

Poonam Mahapatra — Sun, 26 Oct 2014 07:45:58 -0500

The genetic code consists of 64 triplets of nucleotides. These triplets are called codons.With three exceptions, each codon encodes for one of the 20 amino acids used in the synthesis of proteins. That produces some redundancy in the code: most of the amino acids being encoded by more than one codon.

The image summarise all in one.

More at http://users.rcn.com/jkimball.ma.ultranet/BiologyPages/C/Codons.html

Assistant Professor - Genetics, Genomics, Evolution, and Development - Molecular & Cell Biology

Fri, 14 Aug 2026 09:54:00 -0500

Salary range: The current salary range for this position is $84,100 - $132,900 (9-month academic year salary), however, off-scale salary and other components of pay, which would yield compensation that is higher than this range, are offered to meet competitive conditions.
Anticipated start: July 1, 2027
Application Window
Open date: July 27, 2026
Next review date: Monday, Oct 19, 2026 at 11:59pm (Pacific Time)
Apply by this date to ensure full consideration by the committee.
Final date: Monday, Oct 19, 2026 at 11:59pm (Pacific Time)
Applications will continue to be accepted until this date.
The Department of Molecular and Cell Biology (MCB) at the University of California, Berkeley invites applications for a tenure-track faculty position in the Genetics, Genomics, Evolution, and Development (GGED) Division, at the Assistant Professor level.

More at https://evoldir.net/brian/evoldir/Jobs//UC-Berkeley.Tenure_track_faculty_in_genetics_genomics_evolution_and_development

Key Bioinformatics Scientists

Rahul Agarwal — Wed, 09 Oct 2013 13:37:07 -0500

Address of the bookmark: http://www.iscb.org/iscb-leadership-a-staff-/officers-and-board-directors