Alignment-free sequence comparison: benefits, applications, and tools

A Zielezinski, S Vinga, J Almeida, WM Karlowski - Genome biology, 2017 - Springer
Alignment-free sequence analyses have been applied to problems ranging from whole-
genome phylogeny to the classification of protein families, identification of horizontally …

HaploGrep 2: mitochondrial haplogroup classification in the era of high-throughput sequencing

H Weissensteiner, D Pacher… - Nucleic acids …, 2016 - academic.oup.com
Mitochondrial DNA (mtDNA) profiles can be classified into phylogenetic clusters
(haplogroups), which is of great relevance for evolutionary, forensic and medical genetics …

Ancient genomes indicate population replacement in Early Neolithic Britain

S Brace, Y Diekmann, TJ Booth, L van Dorp… - Nature ecology & …, 2019 - nature.com
The roles of migration, admixture and acculturation in the European transition to farming
have been debated for over 100 years. Genome-wide ancient DNA studies indicate …

[HTML][HTML] The genomic origins of the world's first farmers

N Marchi, L Winkelbach, I Schulz, M Brami… - Cell, 2022 - cell.com
The precise genetic origins of the first Neolithic farming populations in Europe and
Southwest Asia, as well as the processes and the timing of their differentiation, remain …

Bioinformatics tools and databases to assess the pathogenicity of mitochondrial DNA variants in the field of next generation sequencing

C Bris, D Goudenege, V Desquiret-Dumas… - Frontiers in …, 2018 - frontiersin.org
The development of next generation sequencing (NGS) has greatly enhanced the diagnosis
of mitochondrial disorders, with a systematic analysis of the whole mitochondrial DNA …

Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation

EM McCormick, MT Lott, MC Dulik, L Shen… - Human …, 2020 - Wiley Online Library
Mitochondrial DNA (mtDNA) variant pathogenicity interpretation has special considerations
given unique features of the mtDNA genome, including maternal inheritance, variant …

PhyloTree Build 17: Growing the human mitochondrial DNA tree

M Van Oven - Forensic Science International: Genetics Supplement …, 2015 - Elsevier
An accurate, up-to-date, detailed and global phylogenetic tree of human mitochondrial DNA
(mtDNA) is essential for various forensic mtDNA applications including data quality control …

Ancient genomes from present-day France unveil 7,000 years of its demographic history

S Brunel, EA Bennett, L Cardin… - Proceedings of the …, 2020 - National Acad Sciences
Genomic studies conducted on ancient individuals across Europe have revealed how
migrations have contributed to its present genetic landscape, but the territory of present-day …

A genomic Neolithic time transect of hunter-farmer admixture in central Poland

DM Fernandes, D Strapagiel, P Borówka, B Marciniak… - Scientific reports, 2018 - nature.com
Ancient DNA genome-wide analyses of Neolithic individuals from central and southern
Europe indicate an overall population turnover pattern in which migrating farmers from …

Sieve: Scalable in-situ dram-based accelerator designs for massively parallel k-mer matching

L Wu, R Sharifi, M Lenjani, K Skadron… - 2021 ACM/IEEE 48th …, 2021 - ieeexplore.ieee.org
The rapid influx of biosequence data, coupled with the stagnation of the processing power of
modern computing systems, highlights the critical need for exploring high-performance …