BOL: Related items

Indexcov: fast coverage quality control for whole-genome sequencing

Jit — Wed, 29 Aug 2018 09:20:46 -0500

indexcov, an efficient estimator of whole-genome sequencing coverage to rapidly identify samples with aberrant coverage profiles, reveal large-scale chromosomal anomalies, recognize potential batch effects, and infer the sex of a sample. Indexcov is available at https://github.com/brentp/goleft under the MIT license.

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

d2Tools: The toolbox for counting the frequency of k-tuple from sequencing datasets and calculate the dissimilarity

Jit — Thu, 20 Sep 2018 08:38:29 -0500

d2Tools are the toolbox for counting the frequency of K-tuple from sequencing datasets and then calculating the pairwise dissimilarity matrix between samples with the d2-style(d2/d2*/d2S representing d2/d2Star/d2shepp, respectively) measures. Hao, Dai, Eucliean, Mahattan, and Chebyshev distance measures are also included in d2Tools.

Manual at https://code.google.com/archive/p/d2-tools/wikis/d2ToolMannual.wiki

Address of the bookmark: https://code.google.com/archive/p/d2-tools/

sim3C: Read-pair simulation of 3C-based sequencing methodologies (HiC, Meta3C, DNase-HiC)

Jit — Tue, 13 Nov 2018 07:25:38 -0600

Required python modules

biopython
intervaltree
numpy
scipy
tqdm
PyYAML

Address of the bookmark: https://github.com/cerebis/sim3C

NGS Platforms launched by BGI’s MGI Tech

Jit — Thu, 10 Jan 2019 04:42:06 -0600

MGI Tech Co., Ltd. (MGI), a subsidiary of BGI Group, is committed to enabling effective and affordable healthcare solutions for all. Based on its proprietary technology, MGI produces sequencing devices, equipment, consumables and reagents to support life science research, medicine and healthcare. MGI's multi-omics platforms include genetic sequencing, mass spectrometry and medical imaging. Providing real-time, comprehensive, life-long solutions, its mission is to develop and promote advanced life science tools for future healthcare.

MGI, a subsidiary of global genomics leader BGI Group, announced pricing and its first early access customer for the new ultra high-throughput sequencer, MGISEQ-T7, saying it has driven down sequencing cost to $5 per gigabyte, with exceptionally high accuracy. Such innovations are helping more people to realize the benefits of genomic information.

In October, MGI launched the MGISEQ-T7, a highly flexible production-scale platform that is the most powerful sequencer to date. It can produce as many as 60 whole human genomes in one day. The instrument sells for $1 million.

The T7 enables simultaneous but independent operation of up to four flow cells, which means different applications such as single-cell RNA sequencing, whole exome sequencing and whole genome sequencing can be run in different flow cells at the same time. This helps to reduce costs, allowing MGI to offer the most competitive sequencing price in the market.

Powered by DNBseq™, MGISEQ delivers quality data with accuracy for SNP and Indel calling rate of 99.9% and 99%, respectively, along with decreased duplication rate down to less than 2 percent, and almost zero Index mis-assignment rate.

SOURCE MGI

https://www.bgi.com/global/company/news/bgis-mgi-tech-launches-two-new-ngs-platforms/

http://en.mgitech.cn/

jackalope: A swift, versatile phylogenomic and high-throughput sequencing simulator

Abhimanyu Singh — Fri, 26 Jul 2019 00:58:12 -0500

jackalope simply and efficiently simulates (i) variants from reference genomes and (ii) reads from both Illumina and Pacific Biosciences (PacBio) platforms. It can either read reference genomes from FASTA files or simulate new ones. Genomic variants can be simulated using summary statistics, phylogenies, Variant Call Format (VCF) files, and coalescent simulations—the latter of which can include selection, recombination, and demographic fluctuations. jackalope can simulate single, paired-end, or mate-pair Illumina reads, as well as reads from Pacific Biosciences These simulations include sequencing errors, mapping qualities, multiplexing, and optical/PCR duplicates. All outputs can be written to standard file formats.

A swift, versatile phylogenomic and high-throughput sequencing simulator https://jackalope.lucasnell.com

Address of the bookmark: https://github.com/lucasnell/jackalope

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