BOL: Related items

Flye: Fast and accurate de novo assembler for single molecule sequencing reads

BioJoker — Tue, 02 Apr 2019 21:54:55 -0500

Flye is a de novo assembler for single molecule sequencing reads, such as those produced by PacBio and Oxford Nanopore Technologies. It is designed for a wide range of datasets, from small bacterial projects to large mammalian-scale assemblies. The package represents a complete pipeline: it takes raw PB / ONT reads as input and outputs polished contigs. Flye also includes a special mode for metagenome assembly.

Address of the bookmark: https://github.com/fenderglass/Flye

mosdepth: fast BAM/CRAM depth calculation for WGS, exome, or targeted sequencing

Jit — Wed, 13 Nov 2019 22:20:19 -0600

mosdepth can output:

per-base depth about 2x as fast samtools depth--about 25 minutes of CPU time for a 30X genome.
mean per-window depth given a window size--as would be used for CNV calling.
the mean per-region given a BED file of regions.
a distribution of proportion of bases covered at or above a given threshold for each chromosome and genome-wide.
quantized output that merges adjacent bases as long as they fall in the same coverage bins e.g. (10-20)
threshold output to indicate how many bases in each region are covered at the given thresholds.
A summary of mean depths per chromosome and within specified regions per chromosome.

Address of the bookmark: https://github.com/brentp/mosdepth

FastGT: an alignment-free method for calling common SNVs directly from raw sequencing reads

Jit — Tue, 28 Jan 2020 03:27:33 -0600

FastGT is a program package for whole-genome genotyping of genome variants directly from raw sequencing reads. It is written in C and runs in Linux. FastGT uses a list of variant-specific k-mer pairs that are unique in human genome, counts the frequency of k-mers in sequencing data and predicts the genotype. All this takes less than 1 hour on average low-cost Linux server.

http://bioinfo.ut.ee/FastGT/

https://github.com/bioinfo-ut/GenomeTester4/

Address of the bookmark: http://bioinfo.ut.ee/FastGT/

HASLR: a hybrid assembler which uses both second and third generation sequencing reads

BioStar — Mon, 04 May 2020 02:04:03 -0500

HASLR, a hybrid assembler which uses both second and third generation sequencing reads to efficiently generate accurate genome assemblies. Our experiments show that HASLR is not only the fastest assembler but also the one with the lowest number of misassemblies on all the samples compared to other tested assemblers. Furthermore, the generated assemblies in terms of contiguity and accuracy are on par with the other tools on most of the samples. Availability. HASLR is an open source tool available at https://github.com/vpc-ccg/haslr.

Address of the bookmark: https://github.com/vpc-ccg/haslr

Ktrim: an extra-fast and accurate adapter- and quality-trimmer for sequencing data

Jit — Thu, 11 Feb 2021 21:39:05 -0600

Ktrim is written in C++ for GNU Linux/Unix platforms. After uncompressing the source package, you can find an executable file ktrim under bin/ directory compiled using g++ v4.8.5 and linked with libz v1.2.7 for Linux x86_64 system. If you could not run it (which is usually caused by low version of libc++ or libz library) or you want to build a version optimized for your system, you can re-compile the programs:

user@linux$ make clean && make

Address of the bookmark: https://github.com/hellosunking/Ktrim

Postdoctoral Associate - Bioinformatics at Duke University Medical Center

Sat, 10 Aug 2013 18:38:38 -0500

The Department of Biostatistics and Bioinformatics at Duke University Medical Center is seeking a Postdoctoral Associate for a one year appointment to work on several high-dimensional research projects. The specific goals of the project are to identify genes or molecular markers that are predictive of clinical outcomes in renal and prostate cancer.

Candidates must have: a PhD degree in statistics, biostatistics or bioinformatics, extensive experience in analyzing high-dimensional data (microarray, SNP, CNVs) and of validation approaches. In addition, experience in penalized regression methods, data base manipulation; and strong programming skills in order to conduct Monte Carlo studies and applications (R). Candidate must have excellent communication skills (verbal, written and presentation), a strong proficiency in Linux system.

This position is available immediately and will be filled as soon as possible. Appointment could be extended beyond the first year based on additional funding.

For more information about the Department of Biostatistics and Bioinformatics, please visit our website: http://www.biostat.duke.edu.

For more info: http://biostat.duke.edu/sites/biostat.duke.edu/files/Halabi%20-%20Postdoc%20Job%20Posting%202013%20updated.pdf

Duke University is an Equal Opportunity/Affirmative Action Employer.

Summer 2016

Sun, 21 Feb 2016 06:17:55 -0600

REU at Fordham University- Summer 2016

An NSF-funded REU to study Y-chromosome diversity and sex-biased dispersal in wild brown rats (Rattus norvegicus) is available in the Munshi-South Lab at Fordham University. Our lab is currently investigating rat evolution at scales ranging from landscape genetics of individual cities to global patterns of diversity. Development of resources for investigating Y-chromosome diversity will support many of these studies. The REU student will work with the lab to bioinformatically identify Y-chromosome SNPs, design SNPtype assays,
extract DNA, genotype samples, and analyze data.

We seek applicants interested in bioinformatics, evolutionary biology, and related disciplines. Applicants must have taken a college-level genetics course. This REU will require attention to detail, reliability, independence, and critical thinking.

This position is based at Fordham University's field station, the Louis Calder Center, in Armonk, NY. The Calder Center is located approximately 25 miles north of New York City in a protected woodland area. Housing
will be provided at the Calder Center for the duration of the REU (May 23 to Aug 12, 2016). Additionally, the student will receive a $6,000 stipend. The selected student will participate in professional development activities through the Calder Centers REU program, including presentation of results at a research colloquium at the end of the summer.

To apply, please send a one page personal statement about your scientific interests and how this REU will support your professional goals, unofficial transcripts including a list of Spring 2016 courses, and names of two professional references (including title, address, phone number, and email address) as a single pdf (with your last name in the file name) to Dr. Jason Munshi-South (jmunshisouth@fordham.edu).

Applications are due March 4th, 2016.

Jason Munshi-South

Platypus: A Haplotype-Based Variant Caller For Next Generation Sequence Data

Shruti Paniwala — Thu, 25 Oct 2018 06:14:55 -0500

Platypus is a tool designed for efficient and accurate variant-detection in high-throughput sequencing data. By using local realignment of reads and local assembly it achieves both high sensitivity and high specificity. Platypus can detect SNPs, MNPs, short indels, replacements and (using the assembly option) deletions up to several kb. It has been extensively tested on whole-genome, exon-capture, and targeted capture data, it has been run on very large datasets as part of the Thousand Genomes and WGS500 projects, and is being used in clinical sequencing trials in the Mainstreaming Cancer Genetics programme.

Tutorial https://github.com/andyrimmer/Platypus/blob/master/misc/README.txt

Address of the bookmark: http://www.well.ox.ac.uk/platypus

Variant Calling Pipeline

LEGE — Sat, 19 Oct 2024 12:23:40 -0500

The variantcalling.nf nextflow script will take any number of samples with paired-end reads in FASTQ format, map reads using Bowtie2, process BAM files, and finally call variants using BCFtools v1.21 and/or Freebayes v1.3.6. If part of the pipeline is unsuccessful for a sample then these errors are ignored.

Pipeline flowchart:

Dependencies (version tested)

Nextflow (24.04.4)
Java (18.0.2.1)
Python (3.10)
Perl (5.32.1)
Bowtie2 (2.5.3)
SAMtools (1.19.2)
GATK4 (4.5)
BCFtools (1.21)
Freebayes (1.3.6)

Address of the bookmark: https://github.com/Tom-Jenkins/nextflow-pipelines/blob/main/docs/variant-calling.md

Kevler: Reference-free variant discovery in large eukaryotic genomes

Jit — Tue, 28 Jan 2020 03:21:53 -0600

Welcome to kevlar, software for predicting de novo genetic variants without mapping reads to a reference genome! kevlar's k-mer abundance based method calls single nucleotide variants (SNVs), multinucleotide variants (MNVs), insertion/deletion variants (indels), and structural variants (SVs) simultaneously with a single simple model.

More at https://kevlar.readthedocs.io/en/latest/

https://www.cell.com/iscience/pdf/S2589-0042(19)30259-7.pdf

Address of the bookmark: https://github.com/kevlar-dev/kevlar