EAGER encompasses both state-of-the-art tools for each step as well as new complementary tools tailored for ancient DNA data within a single integrated solution in an easily accessible format.

https://genomebiology.biomedcentral.com/articles/10.1186/s13059-016-0918-z

Address of the bookmark: https://github.com/apeltzer/EAGER-GUI

With Single Molecule, Real-Time (SMRT) Sequencing, you can access structural variations having a broad range of sizes, types, and GC content with the ability to:

• Uncover missing heritability linked to structural variation
• Unambiguously identify genomic context and variant breakpoints at the sequence level to unravel the genetic etiology of disease
• Resolve structural variation across the complete size spectrum with basepair resolution

Following are the SV tools, which can assist you to achieve your goal.

Sniffles: Structural variation caller using third generation sequencing

Sniffles is a structural variation caller using third generation sequencing (PacBio or Oxford Nanopore). It detects all types of SVs using evidence from split-read alignments, high-mismatch regions, and coverage analysis. Please note the current version of Sniffles requires sorted output from BWA-MEM (use -M and -x parameter) or NGM-LR with the optional SAM attributes enabled! 

More at https://github.com/fritzsedlazeck/Sniffles

MultiBreak-SV: It identifies structural variants from next-generation paired end data, third-generation long read data, or data from a combination of sequencing platforms.

There are two pieces of software in this release: (1) a pre-processor that takes machineformat (.m5) BLASR files, and (2) MultiBreak-SV. For installation and usage instructions, see doc/MultiBreakSV-Manual.txt.

More at https://github.com/raphael-group/multibreak-sv

Parliament: A Structural Variation Tool. Why ask a single sv-detection approach to find every variant when you can have a parliament of tools deciding?

Publication about the algorithm and “…the first long-read characterization of structural variation in a diploid human personal genome…” (HS1011) - “Assessing structural variation in a personal genome—towards a human reference diploid genome”

More at https://sourceforge.net/projects/parliamentsv/

https://www.dnanexus.com/papers/Parliament_Info_Sheet.pdf

PBHoney: the structural variation discovery tool 

PBHoney is an implementation of two variant-identification approaches designed to exploit the high mappability of long reads (i.e., greater than 10,000 bp). PBHoney considers both intra-read discordance and soft-clipped tails of long reads to identify structural variants.

Read The Paper http://www.biomedcentral.com/1471-2105/15/180/abstract

More at https://sourceforge.net/projects/pb-jelly/

SMRT-SV: Structural variant and indel caller for PacBio reads

Structural variant (SV) and indel caller for PacBio reads based on methods from Chaisson et al. 2014.

SMRT-SV provides an official software package for tools described in Chaisson et al. 2014 and adds several key features including the following.

• Unified variant calling user interface with built-in cluster compute support
• Small indel calling (2-49 bp)
• Improved inversion calling (screenInversions)
• Quality metric for SV calls based on number of local assemblies supporting each call
• Higher sensitivity for SV calls using tiled local assemblies across the entire genome instead of "signature" regions
• Genotyping of SVs with Illumina paired-end reads from WGS samples

More at https://github.com/EichlerLab/pacbio_variant_caller

https://salzberg-lab.org/

Address of the bookmark: https://github.com/pratas/smash

DNA:

Nucleotide Code: Base:

---------------- -----

A.................Adenine

C.................Cytosine

G.................Guanine

T (or U)..........Thymine (or Uracil)

R.................A or G

Y.................C or T

S.................G or C

W.................A or T

K.................G or T

M.................A or C

B.................C or G or T

D.................A or G or T

H.................A or C or T

V.................A or C or G

N.................any base . or -............gap

Protein:

Amino Acid Code: Three letter Code: Amino Acid:

---------------- ------------------ -----------

A.................Ala.................Alanine

B.................Asx.................Aspartic acid or Asparagine

C.................Cys.................Cysteine

D.................Asp.................Aspartic Acid

E.................Glu.................Glutamic Acid

F.................Phe.................Phenylalanine

G.................Gly.................Glycine

H.................His.................Histidine

I.................Ile.................Isoleucine

K.................Lys.................Lysine

L.................Leu.................Leucine

M.................Met.................Methionine

N.................Asn.................Asparagine

P.................Pro.................Proline

Q.................Gln.................Glutamine

R.................Arg.................Arginine

S.................Ser.................Serine

T.................Thr.................Threonine

V.................Val.................Valine

W.................Trp.................Tryptophan

X.................Xaa.................Any amino acid

Y.................Tyr.................Tyrosine

Z.................Glx.................Glutamine or Glutamic acid

Address of the bookmark: http://www.littlest.co.uk/software/bioinf/old_packages/miropeats/

More at http://bmbl.sdstate.edu/DMINDA2/

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4086085/

Address of the bookmark: http://bmbl.sdstate.edu/DMINDA2/

Link to the article: https://academic.oup.com/bioinformaticsadvances/article/3/1/vbad174/7455250?searchresult=1

Link to the software:
https://github.com/Sammccarthypotter/ExRec

Address of the bookmark: https://github.com/Sammccarthypotter/ExRec

There are Neanderthal bones. Denisovan remains. Fossils from ancient relatives of our species. Each specimen gives us another piece of the story of how Homo sapiens came to be.

But now imagine that one of the most important characters in that story has left behind no fossil, no skull, no bone, and no genome.

Nothing that a paleontologist could put behind glass.

And yet, somehow, that ancient population is still speaking.

It is speaking through us.

A fascinating new study published in Science (https://www.science.org/doi/10.1126/science.aef8874?) introduces a computational method called TRACE, which allows scientists to search modern human genomes for genetic traces of ancient populations that have never been directly identified.

For years, scientists have known that our ancestors interacted with Neanderthals and Denisovans. Their DNA still survives in modern human populations. But these may not have been the only ancient humans who crossed paths with our ancestors.

Using TRACE, researchers found evidence of an unknown archaic population that contributed DNA to the ancestors of modern humans before humans spread beyond Africa.

Even more surprisingly, they found evidence of a much older lineage—possibly around 1.8 million years old—whose genetic legacy may have reached some modern humans indirectly through Denisovans.

The extraordinary part is that researchers did not need DNA from these mysterious populations to detect them. Instead, they studied the ancestry of modern genomes and looked for genetic patterns that revealed unusually ancient branches of our family history.

It is almost like finding the footprints of someone who disappeared thousands of years ago—without ever finding the person themselves.

These discoveries suggest that human evolution was far more complicated than a simple family tree. Ancient human populations repeatedly separated, migrated, met and exchanged genes. Some eventually disappeared, but pieces of their genetic legacy survived.

And that means our DNA is more than a biological instruction manual.

It is also an archive of human history.

Some of the people recorded in that archive may never have a name or a fossil. But thanks to methods like TRACE, their genetic echoes are finally becoming visible.

The next big discovery about our ancient past may not come from a fossil in the ground.

It may already be inside us.

Reference: Zhang et al., “Recovering signatures of archaic hominin introgression using ancestral recombination graphs,” Science (2026), DOI: 10.1126/science.aef8874. Detail paper @ https://www.science.org/doi/10.1126/science.aef8874?

The TRACE repository (https://github.com/YulinZhang9806/trace) contains the Python package and command-line tools used to infer archaic admixture tracts from ancestral recombination graphs.