BOL: Related items

Rules for Pango Lineage !

Abhi — Tue, 14 Dec 2021 04:40:26 -0600

All the rules to classify a Lineage !

https://www.pango.network/the-pango-nomenclature-system/statement-of-nomenclature-rules/

Address of the bookmark: https://www.pango.network/the-pango-nomenclature-system/statement-of-nomenclature-rules/

Pango Lineage Analysis !

Abhi — Mon, 15 Nov 2021 03:38:29 -0600

The Pango nomenclature is being used by researchers and public health agencies worldwide to track the transmission and spread of SARS-CoV-2, including variants of concern. This website documents all current Pango lineages and their spread, as well as various software tools which can be used by researchers to perform analyses on SARS-COV-2 sequence data.

Address of the bookmark: https://cov-lineages.org/resources/pangolin/output.html

Understanding pango networks !

Abhi — Sat, 16 Oct 2021 14:02:36 -0500

In the vast majority of instances it is expected that Pango lineage names and designations will conform to the following rules. These rules also act as guidelines for the decisions made by the Lineage Designation Committee.

https://www.pango.network/the-pango-nomenclature-system/statement-of-nomenclature-rules/

https://www.pango.network/how-does-the-system-work/what-are-pango-lineages/

Reference paper

https://www.nature.com/articles/s41564-020-0770-5

Address of the bookmark: https://www.pango.network/the-pango-nomenclature-system/statement-of-nomenclature-rules/

UnCoVar: Workflow for Transparent and Robust Virus Variant Calling, Genome Reconstruction and Lineage Assignment

BioStar — Mon, 05 Aug 2024 23:01:29 -0500

UnCoVar: Workflow for Transparent and Robust Virus Variant Calling, Genome Reconstruction and Lineage Assignment

Using state of the art tools, easily extended for other viruses
Tool and database updates for critical components via Conda
Built using modern design patterns with Conda and Snakemake
Extensible and easy to customize
Submission Ready Genomes
Customizable reporting with comprehensive visualization

https://ikim-essen.github.io/uncovar/

Github https://github.com/IKIM-Essen/uncovar

Address of the bookmark: https://ikim-essen.github.io/uncovar/

Ensembl Variation - Calculated variant consequences

Jit — Sun, 09 Sep 2018 19:17:37 -0500

For each variant that is mapped to the reference genome, we identify all overlapping Ensembl transcripts. We then use a rule-based approach to predict the effects that each allele of the variant may have on each transcript. The set of consequence terms, defined by the Sequence Ontology (SO), that can be currently assigned to each combination of an allele and a transcript is shown in the table below. Note that each allele of each variant may have a different effect in different transcripts.

Address of the bookmark: https://www.ensembl.org/info/genome/variation/prediction/predicted_data.html

Kraken: ultrafast metagenomic sequence classification using exact alignments

Jit — Mon, 27 Jun 2016 11:01:44 -0500

Kraken is an ultrafast and highly accurate program for assigning taxonomic labels to metagenomic DNA sequences. Previous programs designed for this task have been relatively slow and computationally expensive, forcing researchers to use faster abundance estimation programs, which only classify small subsets of metagenomic data. Using exact alignment of k-mers, Kraken achieves classification accuracy comparable to the fastest BLAST program. In its fastest mode, Kraken classifies 100 base pair reads at a rate of over 4.1 million reads per minute, 909 times faster than Megablast and 11 times faster than the abundance estimation program MetaPhlAn. Kraken is available at http://ccb.jhu.edu/software/kraken/.

Krona

https://sourceforge.net/p/krona/home/krona/

Address of the bookmark: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4053813/

PureCN: copy number calling and SNV classification using targeted short read sequencing

Jit — Thu, 09 Aug 2018 04:09:37 -0500

This package estimates tumor purity, copy number, and loss of heterozygosity (LOH), and classifies single nucleotide variants (SNVs) by somatic status and clonality. PureCN is designed for targeted short read sequencing data, integrates well with standard somatic variant detection and copy number pipelines, and has support for tumor samples without matching normal samples.

Author: Markus Riester [aut, cre], Angad P. Singh [aut]

Maintainer: Markus Riester

Citation (from within R, enter citation("PureCN")):

Riester M, Singh A, Brannon A, Yu K, Campbell C, Chiang D, Morrissey M (2016). “PureCN: Copy number calling and SNV classification using targeted short read sequencing.” Source Code for Biology and Medicine, 11, 13. doi: 10.1186/s13029-016-0060-z.

Address of the bookmark: http://bioconductor.org/packages/release/bioc/html/PureCN.html

Type of SSR

BioStar — Thu, 09 Mar 2023 04:35:41 -0600

Types of SSRs (simple sequence repeats), SSRs are short DNA sequences consisting of a tandem repeat of a few nucleotides, typically 2-6 nucleotides in length. There are different types of SSRs based on the length and pattern of the repeated sequence, as well as the presence or absence of interruptions of non-repeated nucleotides within the repeat array. The four types of SSRs are:

Perfect SSR: This is the simplest type of SSR, where the same repeat motif is present adjacent to each other without any interruption of any other nucleotide. For example, a perfect SSR with the repeat motif "CAT" would be "CATCATCATCAT", where the "CAT" sequence is repeated four times.
Imperfect SSR: This type of SSR contains repeat motifs that are interrupted by one or a few non-repeat nucleotides. For example, an imperfect SSR with the repeat motif "CAT" would be "CATCATGGCATCATCAT", where the "CAT" sequence is repeated twice, but interrupted by "GG".
Compound perfect SSR: This type of SSR contains two or more repeat motifs lying adjacent to each other, separated by no or very few intervening nucleotides. For example, a compound perfect SSR with the repeat motifs "CAT" and "GTC" would be "CATCATCATGTCGTC", where the "CAT" sequence is repeated three times, followed by the "GTC" sequence repeated twice.
Compound imperfect SSR: This type of SSR contains two or more repeat motifs interrupted by several non-repeat nucleotides. For example, a compound imperfect SSR with the repeat motifs "CAT" and "GTC" would be "CATCATCATNNNNNNNGTCGTCGTC", where the "CAT" sequence is repeated three times, interrupted by several non-repeat nucleotides, followed by the "GTC" sequence repeated three times.

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 Resequencing-Based Genome Inference

Abhi — Wed, 31 Jul 2024 02:02:24 -0500

Variant Calling - Resequencing-Based Genome Inference

Erik Garrison
University of Tennessee Health Science Center
Workshop on Genomics - Český Krumlov
January 12, 2024

https://evomics.org/wp-content/uploads/2024/01/Variant-calling-Workshop-on-Genomics-2024-Cesky-Krumlov.pdf

Address of the bookmark: https://evomics.org/wp-content/uploads/2024/01/Variant-calling-Workshop-on-Genomics-2024-Cesky-Krumlov.pdf