A perfect match genomic landscape provides a unified framework for the precise detection of variation in natural and synthetic haploid genomes

K Palacios-Flores, J García-Sotelo, A Castillo… - Genetics, 2018 - academic.oup.com
At the heart of genomics lies the precise determination of an organism's DNA sequence.
Palacios-Flores et al. present a simple, sensitive, precise, and essentially non-statistical …

Perfect Match Genomic Landscape strategy: Refinement and customization of reference genomes

K Palacios-Flores, J García-Sotelo… - Proceedings of the …, 2021 - National Acad Sciences
When addressing a genomic question, having a reliable and adequate reference genome is
of utmost importance. This drives the necessity to refine and customize reference genomes …

Methods for inter-and intra-species genomics for the detection of variation and function

D Kural - 2014 - escholarship.bc.edu
This thesis concerns itself with the development of methods for comparing genomes.
Chapter 2 is a comparative genomics investigation of coding regions across multiple …

Joint genotyping on the fly: identifying variation among a sequenced panel of inbred lines

EA Stone - Genome Research, 2012 - genome.cshlp.org
High-throughput sequencing is enabling remarkably deep surveys of genomic variation. It is
now possible to completely sequence multiple individuals from a single species, yet the …

[图书][B] Exploring Genetic Diversity and Bioinformatic Strategies for Complex Data in the Genomic Revolution

PE Adams - 2022 - search.proquest.com
Over the past twenty-five years, we have gone from completing the first eukaryotic genome
assembly to the new goal of sequencing and completing genome assemblies representing …

Pangenomics enables genotyping of known structural variants in 5202 diverse genomes

J Sirén, J Monlong, X Chang, AM Novak, JM Eizenga… - Science, 2021 - science.org
INTRODUCTION Modern genomics depends on inexpensive short-read sequencing.
Sequenced reads up to a few hundred base pairs in length are computationally mapped to …

Graphical pangenomics

E Garrison - 2019 - repository.cam.ac.uk
Completely sequencing genomes is expensive, and to save costs we often analyze new
genomic data in the context of a reference genome. This approach distorts our image of the …

A framework for variation discovery and genotyping using next-generation DNA sequencing data

MA DePristo, E Banks, R Poplin, KV Garimella… - Nature …, 2011 - nature.com
Recent advances in sequencing technology make it possible to comprehensively catalog
genetic variation in population samples, creating a foundation for understanding human …

Capturing genomic signatures of DNA sequence variation using a standard anonymous microarray platform

CH Cannon, CS Kua, EK Lobenhofer… - Nucleic Acids …, 2006 - academic.oup.com
Comparative genomics, using the model organism approach, has provided powerful insights
into the structure and evolution of whole genomes. Unfortunately, only a small fraction of …

[PDF][PDF] Processing and analyzing multiple genomes alignments with MafFilter

JY Dutheil - Statistical Population Genomics, 2020 - library.oapen.org
As the number of available genome sequences from both closely related species and
individuals within species increased, theoretical and methodological convergences between …