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mapDamage: testing for damage patterns in ancient DNA sequences.

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TLDR
The mapDamage as discussed by the authors is a Perl script that computes nucleotide misincorporation and fragmentation patterns using next-generation sequencing reads mapped against a reference genome, which are further automatically processed in embedded R script in order to detect typical patterns of genuine ancient DNA sequences.
Abstract
Summary: Ancient DNA extracts consist of a mixture of contaminant DNA molecules, most often originating from environmental microbes, and endogenous fragments exhibiting substantial levels of DNA damage. The latter introduce specific nucleotide misincorporations and DNA fragmentation signatures in sequencing reads that could be advantageously used to argue for sequence validity. mapDamage is a Perl script that computes nucleotide misincorporation and fragmentation patterns using next-generation sequencing reads mapped against a reference genome. The Perl script outputs are further automatically processed in embedded R script in order to detect typical patterns of genuine ancient DNA sequences. Availability and implementation: The Perl script mapDamage is freely available with documentation and example files at http://geogenetics.ku.dk/all_literature/mapdamage/. The script requires prior installation of the SAMtools suite and R environment and has been validated on both GNU/Linux and MacOSX operating systems. Contact: aginolhac@snm.ku.dk Supplementary information: Supplementary data available at Bioinformatics online

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Citations
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Journal ArticleDOI

mapDamage2.0: fast approximate Bayesian estimates of ancient DNA damage parameters

TL;DR: This work describes mapDamage 2.0, a user-friendly package that extends the original features of mapDamage by incorporating a statistical model of DNA damage, and provides estimates of four key features of aDNA molecules: the average length of overhangs, nick frequency, cytosine deamination rates in both double-stranded regions and overhangers, and base quality scores according to their probability of being damaged.
Journal ArticleDOI

Recalibrating Equus evolution using the genome sequence of an early Middle Pleistocene horse.

Ludovic Orlando, +58 more
- 04 Jul 2013 - 
TL;DR: Thealyses suggest that the Equus lineage giving rise to all contemporary horses, zebras and donkeys originated 4.0–4.5 million years before present, twice the conventionally accepted time to the most recent common ancestor of the genus Equus, and supports the contention that Przewalski's horses represent the last surviving wild horse population.
Journal ArticleDOI

Origins and Genetic Legacy of Neolithic Farmers and Hunter-Gatherers in Europe

TL;DR: The results suggest that migration from southern Europe catalyzed the spread of agriculture and that admixture in the wake of this expansion eventually shaped the genomic landscape of modern-day Europe.
References
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Journal ArticleDOI

The Sequence Alignment/Map format and SAMtools

TL;DR: SAMtools as discussed by the authors implements various utilities for post-processing alignments in the SAM format, such as indexing, variant caller and alignment viewer, and thus provides universal tools for processing read alignments.
Journal ArticleDOI

Fast and accurate short read alignment with Burrows–Wheeler transform

TL;DR: Burrows-Wheeler Alignment tool (BWA) is implemented, a new read alignment package that is based on backward search with Burrows–Wheeler Transform (BWT), to efficiently align short sequencing reads against a large reference sequence such as the human genome, allowing mismatches and gaps.
Journal ArticleDOI

Ancient DNA: extraction, characterization, molecular cloning, and enzymatic amplification.

TL;DR: The polymerase chain reaction can be used to amplify and study short mitochondrial DNA sequences that are of anthropological and evolutionary significance and opens up the prospect of performing diachronical studies of molecular evolutionary genetics.
Journal ArticleDOI

Patterns of damage in genomic DNA sequences from a Neandertal

TL;DR: DNA sequences determined from a Neandertal, a mammoth, and a cave bear show that purines are overrepresented at positions adjacent to the breaks in the ancient DNA, suggesting that depurination has contributed to its degradation.
Journal ArticleDOI

Ancient human genome sequence of an extinct Palaeo-Eskimo

TL;DR: This genome sequence of an ancient human obtained from ∼4,000-year-old permafrost-preserved hair provides evidence for a migration from Siberia into the New World some 5,500 years ago, independent of that giving rise to the modern Native Americans and Inuit.
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