A complete documentation is available here.

Address of the bookmark: https://github.com/labgem/PPanGGOLiN

Address of the bookmark: https://github.com/pangenome/pggb

2. Parallel sequencing lives, or what makes large sequencing projects successful https://academic.oup.com/gigascience/article/6/11/gix100/4557140?login=false

3. Common-sense approaches to sharing tabular data alongside publication https://www.sciencedirect.com/science/article/pii/S2666389921002300

4. A Reproducible Data Analysis Workflow with R Markdown, Git, Make, and Docker https://psyarxiv.com/8xzqy/

5. Practical Computational Reproducibility in the Life Sciences https://www.cell.com/cell-systems/fulltext/S2405-4712(18)30140-6

6. A video by Dr.Keith A. Baggerly from MD Anderson [The Importance of Reproducible Research in High-Throughput Biology](https://www.youtube.com/watch?v=7gYIs7uYbMo) highly recommended.

7. Ten Simple Rules for Reproducible Computational Research http://journals.plos.org/ploscompbiol/article?id=10.1371/journal.pcbi.1003285)

8. Good Enough Practices in Scientific Computing http://arxiv.org/abs/1609.00037 

9. Best Practices for Scientific Computing https://journals.plos.org/plosbiology/article?id=10.1371/journal.pbio.1001745

10. A Quick Guide to Organizing Computational Biology Projects http://journals.plos.org/ploscompbiol/article?id=10.1371/journal.pcbi.100042  A must read for computational biologists!

11. Reproducibility of computational workflows is automated using continuous analysis https://www.nature.com/articles/nbt.3780

12. Five selfish reasons to work reproducibly https://genomebiology.biomedcentral.com/articles/10.1186/s13059-015-0850-7

Address of the bookmark: https://github.com/cchauve/lrcstats

Following are the weblink for different available browsers:

http://www.ensembl.org/index.html

http://ensemblgenomes.org/

http://genome.ucsc.edu/

http://www.ncbi.nlm.nih.gov/genome

http://www.ebi.ac.uk/genomes/

http://flybase.org/

http://cmr.jcvi.org/tigr-scripts/CMR/CmrHomePage.cgi

http://www.sanger.ac.uk/resources/databases/

What are SNPs?
SNPs (pronounced "snips") are positions in the genome where individuals differ by a single nucleotide. For example:

Reference: ...A T G C A T G A...
Variant:     ...A T G T A T G A...

Here, the C in the reference genome has been replaced by a T in the variant.

SNPs occur roughly every 300–1,000 bases in the human genome, meaning there are millions of them scattered throughout our DNA. Most SNPs have no effect on health, but some are linked to disease susceptibility, drug response, and other traits.

Why Do We Analyze SNPs?
1. Medical Genetics

Identify disease-associated variants (e.g., BRCA1/2 in breast cancer).

Predict drug response (pharmacogenomics).

Enable precision medicine by tailoring treatments.

2. Population Genetics & Ancestry

Trace human migration and ancestry.

Study genetic diversity within and between populations.

3. Agriculture & Animal Breeding

Select for desirable traits (drought resistance, yield, disease resistance).

Improve breeding efficiency in livestock.

4. Evolutionary Biology

Track natural selection.

Study adaptation in wild populations.

How is SNP Analysis Performed?
SNP analysis can be broadly divided into three steps:

SNP Detection
Genotyping arrays: Chips that test hundreds of thousands of known SNP positions simultaneously. Fast and affordable, widely used in consumer ancestry testing.

Whole-genome or whole-exome sequencing: Can detect known and novel SNPs across the genome.

Targeted sequencing or PCR: For focused analysis of specific regions.

Variant Calling
Sequencing data is aligned to a reference genome. Bioinformatics tools (e.g., GATK, bcftools) identify positions where the sequenced sample differs from the reference.

Annotation and Interpretation
Tools (e.g., SnpEff, VEP) predict the functional impact of SNPs.

Are the SNPs in coding regions? Do they cause amino acid changes? Are they known to be pathogenic?

Databases like dbSNP, ClinVar, and GWAS Catalog provide information on known associations.

Common Tools for SNP Analysis
Alignment: BWA, Bowtie2

Variant Calling: GATK, FreeBayes

Visualization: IGV, UCSC Genome Browser

Annotation: SnpEff, VEP

Statistical Analysis: PLINK, SNPTEST

Challenges in SNP Analysis
False positives/negatives: Sequencing errors, alignment issues.

Population stratification: Confounding in association studies.

Interpretation: Many SNPs have unknown or complex effects.

Researchers address these with rigorous quality control, large datasets, and increasingly sophisticated statistical models.

The Future of SNP Analysis
With advances in sequencing technology and AI-driven analysis, SNP studies are expanding:

Polygenic risk scores predict disease risk based on thousands of SNPs.

Large-scale biobanks (e.g., UK Biobank, All of Us) enable powerful genome-wide association studies (GWAS).

CRISPR and functional assays help validate SNP effects in the lab.

SNP analysis is at the heart of the genomic revolution, promising insights into biology, health, and evolution at unprecedented scale.

Conclusion
From diagnosing rare diseases to designing better crops, SNP analysis is a foundational tool in modern science. As our ability to sequence and interpret genomes improves, so will our understanding of these tiny—but mighty—variations in DNA.

https://genome.sph.umich.edu/wiki/Vt

https://github.com/atks/vt

Address of the bookmark: https://genome.sph.umich.edu/wiki/Vt

According to a preliminary report posted on December 19 by the COG-UK Consortium scientists, as of December 15, 1,623 variant genomes have been sequenced. In a December 21 tweet, COG-UK Consortium said that it added 2,963 more genome sequences of SARS-CoV-2, of which 942 (32%) belong to the new variant. The Consortium intends to sequence 20,000 more SARS-CoV-2 genomes in the next two weeks to further ascertain the spread of the variant.

There is no clear proof, at least not yet, that it does cause severe pandemic. But there is a justification for seriously taking the possibility. Another coronavirus lineage in South Africa has acquired one specific mutation that is also present in B.1.1.7. This variant is increasingly spreading across South Africa's coastal regions. And doctors have observed in preliminary research that individuals infected with this variant bear a higher viral load-a higher concentration of the virus in their upper respiratory tract. In many viral diseases, this is associated with more severe symptoms.