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In this paper we present a collection of results pertaining to haplotyping. The first set of results concerns the combinatorial problem of reconstructing haplotypes from incomplete and/or imperfectly sequenced haplotype data. More…

Genomics · Quantitative Biology 2007-05-23 Rudi Cilibrasi , Leo van Iersel , Steven Kelk , John Tromp

The perfect phylogeny is one of the most used models in different areas of computational biology. In this paper we consider the problem of the Persistent Perfect Phylogeny (referred as P-PP) recently introduced to extend the perfect…

Data Structures and Algorithms · Computer Science 2014-05-30 Paola Bonizzoni , Anna Paola Carrieri , Gianluca Della Vedova , Gabriella Trucco

The problem Parsimony Haplotyping (PH) asks for the smallest set of haplotypes which can explain a given set of genotypes, and the problem Minimum Perfect Phylogeny Haplotyping (MPPH) asks for the smallest such set which also allows the…

Other Quantitative Biology · Quantitative Biology 2007-05-23 Leo van Iersel , Judith Keijsper , Steven Kelk , Leen Stougie

Haplotype phasing, the process of resolving parental allele inheritance patterns in diploid genomes, is critical for precision medicine and population genetics, yet the underlying optimization is NP-hard, posing a scalability challenge. To…

The computational problem of inferring the full haplotype of a cell starting from read sequencing data is known as haplotype assembly, and consists in assigning all heterozygous Single Nucleotide Polymorphisms (SNPs) to exactly one of the…

The binary perfect phylogeny model is too restrictive to model biological events such as back mutations. In this paper we consider a natural generalization of the model that allows a special type of back mutation. We investigate the problem…

Data Structures and Algorithms · Computer Science 2012-06-29 Paola Bonizzoni , Chiara Braghin , Riccardo Dondi , Gabriella Trucco

A looming question that must be solved before robotic plant phenotyping capabilities can have significant impact to crop improvement programs is scalability. High Throughput Phenotyping (HTP) uses robotic technologies to analyze crops in…

Machine Learning · Computer Science 2019-01-23 Sumit Kumar , Wenhao Luo , George Kantor , Katia Sycara

Computing haplotypes from sequencing data, i.e. haplotype assembly, is an important component of molecular and population genetics problems, including interpreting the effects of genetic variation on complex traits and reconstructing…

Genomics · Quantitative Biology 2026-03-12 Marjan Hosseini , Ella Veiner , Thomas Bergendahl , Tala Yasenpoor , Zane Smith , Margaret Staton , Derek Aguiar

The Persistent Perfect phylogeny, also known as Dollo-1, has been introduced as a generalization of the well-known perfect phylogenetic model for binary characters to deal with the potential loss of characters. The problem of deciding the…

Data Structures and Algorithms · Computer Science 2025-07-25 Paola Bonizzoni , Gianluca Della Vedova , Mauricio Soto Gomez , Gabriella Trucco

Reconstructing the evolutionary history of a set of species is a central task in computational biology. In real data, it is often the case that some information is missing: the Incomplete Directed Perfect Phylogeny (IDPP) problem asks,…

Data Structures and Algorithms · Computer Science 2020-10-13 Giulia Bernardini , Paola Bonizzoni , Paweł Gawrychowski

Gene gain-loss-duplication models are commonly based on continuous-time birth-death processes. Employed in a phylogenetic context, such models have been increasingly popular in studies of gene content evolution across multiple genomes.…

Populations and Evolution · Quantitative Biology 2021-07-27 Miklos Csuros

Horizontal gene transfer inference approaches are usually based on gene sequences: parametric methods search for patterns that deviate from a particular genomic signature, while phylogenetic methods use sequences to reconstruct the gene and…

Discrete Mathematics · Computer Science 2023-12-06 Alitzel López Sánchez , Manuel Lafond

To analyze whole-genome genetic data inherited in families, the likelihood is typically obtained from a Hidden Markov Model (HMM) having a state space of 2^n hidden states where n is the number of meioses or edges in the pedigree. There…

Probability · Mathematics 2013-10-07 Bonnie Kirkpatrick , Kay Kirkpatrick

Statistically resolving the underlying haplotype pair for a genotype measurement is an important intermediate step in gene mapping studies, and has received much attention recently. Consequently, a variety of methods for this problem have…

Machine Learning · Computer Science 2007-10-29 Matti Kääriäinen , Niels Landwehr , Sampsa Lappalainen , Taneli Mielikäinen

The evolutionary dynamics of molecular populations are strongly dependent on the structure of genotype spaces. The map between genotype and phenotype determines how easily genotype spaces can be navigated and the accessibility of…

Populations and Evolution · Quantitative Biology 2019-07-03 Juan Antonio García-Martín , Pablo Catalán , Susanna Manrubia , José A. Cuesta

Plant traits are a key to understanding and predicting the adaptation of ecosystems to environmental changes, which motivates the TRY project aiming at constructing a global database for plant traits and becoming a standard resource for the…

Computational Engineering, Finance, and Science · Computer Science 2012-07-03 Hanhuai Shan , Jens Kattge , Peter Reich , Arindam Banerjee , Franziska Schrodt , Markus Reichstein

Humans have $23$ pairs of homologous chromosomes. The homologous pairs are almost identical pairs of chromosomes. For the most part, differences in homologous chromosome occur at certain documented positions called single nucleotide…

Information Theory · Computer Science 2015-02-09 Govinda M. Kamath , Eren Şaşoğlu , David Tse

We investigate the space complexity of certain perfect matching problems over bipartite graphs embedded on surfaces of constant genus (orientable or non-orientable). We show that the problems of deciding whether such graphs have (1) a…

Computational Complexity · Computer Science 2010-04-29 Samir Datta , Raghav Kulkarni , Raghunath Tewari , N. V. Vinodchandran

The advent of plant phenomics, coupled with the wealth of genotypic data generated by next-generation sequencing technologies, provides exciting new resources for investigations into and improvement of complex traits. However, these new…

Genomics · Quantitative Biology 2019-04-30 Gota Morota , Diego Jarquin , Malachy T. Campbell , Hiroyoshi Iwata

This paper studies the haplotype assembly problem from an information theoretic perspective. A haplotype is a sequence of nucleotide bases on a chromosome, often conveniently represented by a binary string, that differ from the bases in the…

Information Theory · Computer Science 2014-05-13 Hongbo Si , Haris Vikalo , Sriram Vishwanath
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