BOL: All site bookmarks

Quip: Aggressive compression of FASTQ, SAM and BAM files.

Neel — Tue, 24 May 2022 06:31:48 -0500

This will help us to reduce the amount of drive space we take up and decrease data transfer times

Quip compresses next-generation sequencing data with extreme prejudice. It supports input and output in the FASTQ and SAM/BAM formats, compressing large datasets to as little as 15% of their original size.

Address of the bookmark: https://github.com/dcjones/quip

GenomeQC: a quality assessment tool for genome assemblies and gene structure annotations

Neel — Thu, 19 May 2022 04:29:05 -0500

The GenomeQC web application is implemented in R/Shiny version 1.5.9 and Python 3.6 and is freely available at https://genomeqc.maizegdb.org/ under the GPL license. All source code and a containerized version of the GenomeQC pipeline is available in the GitHub repository https://github.com/HuffordLab/GenomeQC.

https://bmcgenomics.biomedcentral.com/articles/10.1186/s12864-020-6568-2

Address of the bookmark: https://github.com/HuffordLab/GenomeQC

Snakemake Tutorials !

Rahul Nayak — Mon, 09 May 2022 05:20:41 -0500

A lesson introducing the Snakemake workflow system for bioinformatics analysis.

Prerequisites

This is an intermediate lesson and assumes learners have already done some bioinformatics:

Familiarity with the BASH command shell, including concepts like pipes, variables and loops.

Knowledge of bioinformatics fundamentals like the FASTQ file format and transcriptome sequencing, in order to understand the example workflow.

No previous knowledge of Snakemake or workflow systems is required.

https://carpentries-incubator.github.io/snakemake-novice-bioinformatics/index.html

Address of the bookmark: https://carpentries-incubator.github.io/snakemake-novice-bioinformatics/aio/index.html

MUM&Co is a simple bash script that uses Whole Genome Alignment information provided by MUMmer (v4) to detect variants.

Rahul Nayak — Wed, 27 Apr 2022 04:34:12 -0500

MUM&Co is able to detect:
Deletions, insertions, tandem duplications and tandem contractions (>=50bp & <=150kb)
Inversions (>=1kb) and translocations (>=10kb)

Address of the bookmark: https://github.com/SAMtoBAM/MUMandCo

PuffAligner: a fast, efficient and accurate aligner based on the Pufferfish index

Rahul Nayak — Thu, 21 Apr 2022 05:41:39 -0500

PuffAligner, a fast, accurate and versatile aligner built on top of the Pufferfish index. PuffAligner is able to produce highly sensitive alignments, similar to those of Bowtie2, but much more quickly. While exhibiting similar speed to the ultrafast STAR aligner, PuffAligner requires considerably less memory to construct its index and align reads. PuffAligner strikes a desirable balance with respect to the time, space and accuracy tradeoffs made by different alignment tools and provides a promising foundation on which to test new alignment ideas over large collections of sequences.

Address of the bookmark: https://github.com/COMBINE-lab/pufferfish/tree/cigar-strings

Merfin: improved variant filtering, assembly evaluation and polishing via k-mer validation

Neel — Sun, 03 Apr 2022 20:35:19 -0500

Merfin, a k-mer based variant-filtering algorithm for improved accuracy in genotyping and genome assembly polishing. Merfin evaluates each variant based on the expected k-mer multiplicity in the reads, independently of the quality of the read alignment and variant caller’s internal score. Merfin increased the precision of genotyped calls in several benchmarks, improved consensus accuracy and reduced frameshift errors when applied to human and nonhuman assemblies built from Pacific Biosciences HiFi and continuous long reads or Oxford Nanopore reads, including the first complete human genome. Moreover, we introduce assembly quality and completeness metrics that account for the expected genomic copy numbers.

More at https://www.nature.com/articles/s41592-022-01445-y

Address of the bookmark: https://github.com/arangrhie/merfin

R Shiny in Life Sciences – Top 7 Dashboard Examples

Neel — Fri, 01 Apr 2022 19:05:03 -0500

R Shiny is one of the easiest ways for developers to make production-ready dashboards when speed and functionality are crucial. Shiny is approachable with a lot of documentation available, and because of this, a lot of developers/researchers with non-coding backgrounds are able to produce some impressive results. The whole ecosystem is easy to get your head around and pretty much limitless with regard to what you can do.

Address of the bookmark: https://www.r-bloggers.com/2022/03/r-shiny-in-life-sciences-top-7-dashboard-examples/

The complete sequence of a human genome

Neel — Thu, 31 Mar 2022 23:58:18 -0500

The completed regions include all centromeric satellite arrays, recent segmental duplications, and the short arms of all five acrocentric chromosomes, unlocking these complex regions of the genome to variational and functional studies.

Address of the bookmark: https://www.science.org/doi/10.1126/science.abj6987

Ten quick tips for deep learning in biology

Neel — Fri, 25 Mar 2022 18:35:12 -0500

By taking a comprehensive and careful approach to deep learning based on critical thinking about research questions, planning to maintain rigor, and discerning how work might have far-reaching consequences with ethical dimensions, the life science community can advance reproducible, interpretable, and high-quality science that is enriching and beneficial for both scientists and society.

Address of the bookmark: https://journals.plos.org/ploscompbiol/article?id=10.1371/journal.pcbi.1009803

Understanding HiFi Reads !

Rahul Nayak — Thu, 24 Mar 2022 19:48:11 -0500

While little public data is available for either of the new synthetic long read approaches, Illumina showed an example comparison earlier this year at the Festival of Genomics & Biodata conference (FoG 2022). In the IGV screenshot presented (below), synthetic Infinity reads – labeled “Longas” – are at the top, followed by standard Illumina short reads, and PacBio HiFi reads labeled “CCS” depicted at the bottom:

Address of the bookmark: http://pacb.com/blog/the-hifi-difference-true-long-reads-vs-synthetic-long-reads/