BOL: Related items

VariantBam: Filtering and profiling of next-generational sequencing data using region-specific rules

Rahul Nayak — Thu, 04 Oct 2018 16:30:44 -0500

VariantBam is a tool to extract/count specific sets of sequencing reads from next-generational sequencing files. To save money, disk space and I/O, one may not want to store an entire BAM on disk. In many cases, it would be more efficient to store only those read-pairs or reads who intersect some region around the variant locations. Alternatively, if your scientific question is focused on only one aspect of the data (e.g. breakpoints), many reads can be removed without losing the information relevant to the problem.

Address of the bookmark: https://github.com/broadinstitute/VariantBam

NanoPack: visualizing and processing long-read sequencing data

Jit — Tue, 25 Dec 2018 21:20:50 -0600

The NanoPack tools are written in Python3 and released under the GNU GPL3.0 License. The source code can be found at https://github.com/wdecoster/nanopack, together with links to separate scripts and their documentation. The scripts are compatible with Linux, Mac OS and the MS Windows 10 subsystem for Linux and are available as a graphical user interface, a web service at http://nanoplot.bioinf.be and command line tools.

Address of the bookmark: https://github.com/wdecoster/nanopack

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

Welch Lab

Mon, 15 Jul 2013 18:21:13 -0500

They are based in the Department of Genetics at the University of Cambridge.

The research covers diverse areas of evolutionary biology, and molecular evolution in particular. It combines theoretical and empirical approaches, and particularly evolutionary inference from genome sequence data.

Links @ http://www.gen.cam.ac.uk/research/welch/GroupPage/Home.html

Bionics, Transhumanism, and the end of Evolution (Full Documentary)

Fri, 27 Sep 2013 11:54:17 -0500

Bionics, Transhumanism, and the end of Evolution (Full Documentary) . 2013 This documentary and the rest of the documentaries presented relate to important times and figures in history, historic places and sites, archaeology, science, conspiracy theories, and education. The Topics of these video documentaries are varied and cover ancient history, Rome, Greece, Egypt, science, technology, nature, planet earth, the solar system, the universe, World wars, Battles, education, Biographies, television, archaeology, Illuminati, Area 51, serial killers, paranormal, supernatural, cults, government cover-ups, corruption, martial arts, space, aliens, ufos, conspiracy theories, Annunaki, Nibiru, Nephilim, satanic rituals, religion, strange phenomenon, origins of Mankind

The Cat: evolution, domestication and Genome 10k

Sun, 10 Nov 2013 14:33:56 -0600

A public lecture by Dr Stephen J O'Brien at the UCD Earth Institute, University College Dublin, Ireland. Dr O'Brien is a world leading molecular biologist and dedicated conservationist who uses the tools of molecular biology to help protect endangered species and understand devastating diseases such as cancer and AIDS. He received his PhD in Genetics from Cornell University, USA, in 1971. He then joined the prestigious National Cancer Institute, National Institutes of Health as a post-doc in 1971 and, there, served as Founder and Chief of the Laboratory of Genomic Diversity from 1986-2011. In December 2011, he joined the Theodosius Dobzhansky Center for Genome Bioinformatics, St. Petersburg State University, Russia, as Chief Scientific Officer. Convinced of the utility of exploring diverse species to advance our understanding of the human genome, Dr O'Brien and his team have assembled over 62,000 animal and 424,000 human tissue/DNA specimens, facilitating wide-ranging studies of disease gene associations, species adaptation and natural history. His research interests and expertise span human and comparative genomics, genetic epidemiology, HIV/AIDS, retro-virology, bioinformatics biodiversity and species conservation. Dr O'Brien is best known for documenting the remarkable genetic uniformity of African cheetahs, resolving the mammalian tree of life, describing heretofore unrecognized species of Orangutans, African forest elephants, and Bornean clouded leopards. He is credited with the discovery of CCR5 delta 32, the first of 20 human AIDS restriction genes, which imparts natural immunity to HIV. He is the one of the founders of the Genome 10K initiative, has published over 750 leading research papers, written multiple books and is adjunct professor in over 12 international leading universities. The UCD Earth Institute, University College Dublin, is a multidisciplinary research and education centre with a focus on creating and sharing new knowledge. We aim to contribute to sustainable solutions for many of the pressing Earth-related problems affecting societies now and in the near future.