RecGraph: recombination-aware alignment of sequences to variation graphs

J Avila Cartes, P Bonizzoni, S Ciccolella… - …, 2024 - academic.oup.com
Motivation Bacterial genomes present more variability than human genomes, which requires
important adjustments in computational tools that are developed for human data. In …

VarMatch: robust matching of small variant datasets using flexible scoring schemes

C Sun, P Medvedev - Bioinformatics, 2017 - academic.oup.com
Motivation Small variant calling is an important component of many analyses, and, in many
instances, it is important to determine the set of variants which appear in multiple callsets …

Hardness of covering alignment: phase transition in post-sequence genomics

R Rizzi, M Cairo, V Mäkinen… - IEEE/ACM …, 2018 - ieeexplore.ieee.org
Covering alignment problems arise from recent developments in genomics; so called pan-
genome graphs are replacing reference genomes, and advances in haplotyping enable full …

On enhancing variation detection through pan-genome indexing

D Valenzuela, N Välimäki, E Pitkänen, V Mäkinen - bioRxiv, 2015 - biorxiv.org
Detection of genomic variants is commonly conducted by aligning a set of reads sequenced
from an individual to the reference genome of the species and analyzing the resulting read …

Diploid alignments and haplotyping

V Mäkinen, D Valenzuela - … Symposium, ISBRA 2015 Norfolk, USA, June …, 2015 - Springer
Sequence alignments have been studied for decades under the simplified model of a
consensus sequence representing a chromosome. A natural question is if there is some …

[PDF][PDF] Diploid alignment is NP-hard

R Rizzi, M Cairo, V Mäkinen… - arXiv preprint arXiv …, 2016 - researchgate.net
Human genomes consist of pairs of homologous chromosomes, one of which is inherited
from the mother and the other from the father. Species, such as human, with pairs of …

[PDF][PDF] Facts and Figures 2011

E Bingham - 2012 - 128.214.112.31
We first list the funding sources and the distribution of expenses of each site separately. One
should note that comparison between different years or between universities is not always …