scholarly journals The Drosophila Genome Nexus: a population genomic resource of 605 Drosophila melanogaster genomes, including 197 genomes from a single ancestral range population

2014 ◽  
Author(s):  
Justin Lack ◽  
Charis Cardeno ◽  
Marc Crepeau ◽  
William Taylor ◽  
Russ Corbett-Detig ◽  
...  
Keyword(s):  
Population Genomics ◽  
Demographic History ◽  
Genetic Research ◽  
Genomic Analysis ◽  
Data Sets ◽  
Large Sample Size ◽  
Drosophila Genome ◽  
High Genetic Diversity ◽  
Population Genomic ◽  
Variant Detection

Hundreds of wild-derived D. melanogaster genomes have been published, but rigorous comparisons across data sets are precluded by differences in alignment methodology. The most common approach to reference-based genome assembly is a single round of alignment followed by quality filtering and variant detection. We evaluated variations and extensions of this approach, and settled on an assembly strategy that utilizes two alignment programs and incorporates both SNPs and short indels to construct an updated reference for a second round of mapping prior to final variant detection. Utilizing this approach, we reassembled published D. melanogaster population genomic data sets (previous DPGP releases and the DGRP freeze 2.0), and added unpublished genomes from several sub-Saharan populations. Most notably, we present aligned data from phase 3 of the Drosophila Population Genomics Project (DPGP3), which provides 197 genomes from a single ancestral range population of D. melanogaster (from Zambia). The large sample size, high genetic diversity, and potentially simpler demographic history of the DPGP3 sample will make this a highly valuable resource for fundamental population genetic research. The complete set of assemblies described here, termed the Drosophila Genome Nexus, presently comprises 605 consistently aligned genomes, and is publicly available in multiple formats with supporting documentation and bioinformatic tools. This resource will greatly facilitate population genomic analysis in this model species by reducing the methodological differences between data sets.

scholarly journals Long-read genome sequencing for the diagnosis of neurodevelopmental disorders

2020 ◽  
Author(s):  
Susan M. Hiatt ◽  
James M.J. Lawlor ◽  
Lori H. Handley ◽  
Ryne C. Ramaker ◽  
Brianne B. Rogers ◽  
...  
Keyword(s):  
Genome Sequencing ◽  
Neurodevelopmental Disorders ◽  
De Novo ◽  
Genomic Analysis ◽  
Data Sets ◽  
Short Read ◽  
Long Read ◽  
Variant Detection ◽  
Circular Consensus Sequencing

AbstractPurposeExome and genome sequencing have proven to be effective tools for the diagnosis of neurodevelopmental disorders (NDDs), but large fractions of NDDs cannot be attributed to currently detectable genetic variation. This is likely, at least in part, a result of the fact that many genetic variants are difficult or impossible to detect through typical short-read sequencing approaches.MethodsHere, we describe a genomic analysis using Pacific Biosciences circular consensus sequencing (CCS) reads, which are both long (>10 kb) and accurate (>99% bp accuracy). We used CCS on six proband-parent trios with NDDs that were unexplained despite extensive testing, including genome sequencing with short reads.ResultsWe identified variants and created de novo assemblies in each trio, with global metrics indicating these data sets are more accurate and comprehensive than those provided by short-read data. In one proband, we identified a likely pathogenic (LP), de novo L1-mediated insertion in CDKL5 that results in duplication of exon 3, leading to a frameshift. In a second proband, we identified multiple large de novo structural variants, including insertion-translocations affecting DGKB and MLLT3, which we show disrupt MLLT3 transcript levels. We consider this extensive structural variation likely pathogenic.ConclusionThe breadth and quality of variant detection, coupled to finding variants of clinical and research interest in two of six probands with unexplained NDDs strongly support the value of long-read genome sequencing for understanding rare disease.

scholarly journals A Thousand Fly Genomes: An Expanded Drosophila Genome Nexus

2016 ◽  
Author(s):  
Justin B. Lack ◽  
Jeremy D. Lange ◽  
Alison D. Tang ◽  
Russell B. Corbett-Detig ◽  
John E. Pool
Keyword(s):  
Current Data ◽  
Published Data ◽  
Data Sets ◽  
Drosophila Genome ◽  
Population Admixture ◽  
Multiple Sources ◽  
Common Reference ◽  
Data Object ◽  
Population Genomic ◽  
Genomic Resource

ABSTRACTThe Drosophila Genome Nexus is a population genomic resource that provides D. melanogaster genomes from multiple sources. To facilitate comparisons across data sets, genomes are aligned using a common reference alignment pipeline which involves two rounds of mapping. Regions of residual heterozygosity, identity-by-descent, and recent population admixture are annotated to enable data filtering based on the user’s needs. Here, we present a significant expansion of the Drosophila Genome Nexus, which brings the current data object to a total of 1,122 wild-derived genomes. New additions include 306 previously unpublished genomes from inbred lines representing six population samples in Egypt, Ethiopia, France, and South Africa, along with another 193 genomes added from recently-published data sets. We also provide an aligned D. simulans genome to facilitate divergence comparisons. This improved resource will broaden the range of population genomic questions that can addressed from multi-population allele frequencies and haplotypes in this model species. The larger set of genomes will also enhance the discovery of functionally relevant natural variation that exists within and between populations.

scholarly journals Population Genomic Analysis Reveals a Rich Speciation and Demographic History of Orang-utans (Pongo pygmaeus and Pongo abelii)

PLoS ONE ◽  
2013 ◽  
Vol 8 (10) ◽  
pp. e77175 ◽  
Author(s):  
Xin Ma ◽  
Joanna L. Kelley ◽  
Kirsten Eilertson ◽  
Shaila Musharoff ◽  
Jeremiah D. Degenhardt ◽  
...  
Keyword(s):  
Demographic History ◽  
Genomic Analysis ◽  
Pongo Pygmaeus ◽  
Pongo Abelii ◽  
Population Genomic ◽  
History Of

scholarly journals Coherence of Microcystis species revealed through population genomics

2019 ◽  
Author(s):  
Olga M. Pérez-Carrascal ◽  
Yves Terrat ◽  
Alessandra Giani ◽  
Nathalie Fortin ◽  
Charles W. Greer ◽  
...  
Keyword(s):  
Gene Flow ◽  
Local Adaptation ◽  
Population Genomics ◽  
Genomic Analysis ◽  
Geographic Location ◽  
Biological Species ◽  
Genomic Diversity ◽  
Cyanobacterial Blooms ◽  
Colony Morphology ◽  
Population Genomic

AbstractMicrocystis is a genus of freshwater cyanobacteria which causes harmful blooms in ecosystems worldwide. Some Microcystis strains produce harmful toxins such as microcystin, impacting drinking water quality. Microcystis colony morphology, rather than genetic similarity, is often used to classify Microcystis into morphospecies. However, colony morphology is a plastic trait which can change depending on environmental and laboratory culture conditions, and is thus an inadequate criterion for species delineation. Furthermore, Microcystis populations are thought to disperse globally and constitute a homogeneous gene pool. However, this assertion is based on relatively incomplete characterization of Microcystis genomic diversity. To better understand these issues, we performed a population genomic analysis of 33 newly sequenced genomes (of which 19 were resequenced to check for mutation in culture) mainly from Canada and Brazil. We identified eight Microcystis clusters of genomic similarity, only four of which correspond to named morphospecies and monophyletic groups. Notably, M. aeruginosa is paraphyletic, distributed across four genomic clusters, suggesting it is not a coherent species. Most monophyletic groups are specific to a unique geographic location, suggesting biogeographic structure over relatively short evolutionary time scales. Higher homologous recombination rates within than between clusters further suggest that monophyletic groups might adhere to a Biological Species-like concept, in which barriers to gene flow maintain species distinctness. However, certain genes – including some involved in microcystin and micropeptin biosynthesis – are recombined between monophyletic groups in the same geographic location, suggesting local adaptation. Together, our results show the importance of using genomic criteria for Microcystis species delimitation and suggest the existence of locally adapted lineages and genes.ImportanceThe genus Microcystis is responsible for harmful and often toxic cyanobacterial blooms across the world, yet it is unclear how and if the genus should be divided into ecologically and genomically distinct species. To resolve the controversy and uncertainty surrounding Microcystis species, we performed a population genomic analysis of Microcystis genome from public databases, along with new isolates from Canada and Brazil. We inferred that significant genetic substructure exists within Microcystis, with several species being maintained by barriers to gene flow. Thus, Microcystis appears to be among a growing number of bacteria that adhere to a Biological Species-like Concept (BSC). Barriers to gene flow are permeable, however, and we find evidence for relatively frequent cross-species horizontal gene transfer (HGT) of genes that may be involved in local adaptation. Distinct clades of Microcystis (putative species) tend to have distinct profiles of toxin biosynthesis genes, and yet toxin genes are also subject to cross-species HGT and local adaptation. Our results thus pave the way for more informed classification, monitoring and understanding of harmful Microcystis blooms.

scholarly journals Population Genomic Analysis of ALMS1 in Humans Reveals a Surprisingly Complex Evolutionary History

2009 ◽  
Vol 26 (6) ◽  
pp. 1357-1367 ◽  
Author(s):  
Laura B. Scheinfeldt ◽  
Shameek Biswas ◽  
Jennifer Madeoy ◽  
Caitlin F. Connelly ◽  
Eric E. Schadt ◽  
...  
Keyword(s):  
Evolutionary History ◽  
Genomic Analysis ◽  
Population Genomic ◽  
Complex Evolutionary History

scholarly journals The importance of input data quality and quantity in climate field reconstructions – results from the assimilation of various tree-ring collections

2020 ◽  
Vol 16 (3) ◽  
pp. 1061-1074 ◽  
Author(s):  
Jörg Franke ◽  
Veronika Valler ◽  
Stefan Brönnimann ◽  
Raphael Neukom ◽  
Fernando Jaume-Santero
Keyword(s):  
Sample Size ◽  
Tree Ring ◽  
Input Data ◽  
Small Sample ◽  
Screening Methods ◽  
Temperature Sensitive ◽  
Data Sets ◽  
Large Sample Size ◽  
Spatial Coverage ◽  
Reconstruction Quality

Abstract. Differences between paleoclimatic reconstructions are caused by two factors: the method and the input data. While many studies compare methods, we will focus in this study on the consequences of the input data choice in a state-of-the-art Kalman-filter paleoclimate data assimilation approach. We evaluate reconstruction quality in the 20th century based on three collections of tree-ring records: (1) 54 of the best temperature-sensitive tree-ring chronologies chosen by experts; (2) 415 temperature-sensitive tree-ring records chosen less strictly by regional working groups and statistical screening; (3) 2287 tree-ring series that are not screened for climate sensitivity. The three data sets cover the range from small sample size, small spatial coverage and strict screening for temperature sensitivity to large sample size and spatial coverage but no screening. Additionally, we explore a combination of these data sets plus screening methods to improve the reconstruction quality. A large, unscreened collection generally leads to a poor reconstruction skill. A small expert selection of extratropical Northern Hemisphere records allows for a skillful high-latitude temperature reconstruction but cannot be expected to provide information for other regions and other variables. We achieve the best reconstruction skill across all variables and regions by combining all available input data but rejecting records with insignificant climatic information (p value of regression model >0.05) and removing duplicate records. It is important to use a tree-ring proxy system model that includes both major growth limitations, temperature and moisture.

scholarly journals Spatial population genomics of a recent mosquito invasion

2020 ◽  
Author(s):  
Thomas L Schmidt ◽  
T. Swan ◽  
Jessica Chung ◽  
Stephan Karl ◽  
Samuel Demok ◽  
...  
Keyword(s):  
Gene Flow ◽  
Population Genomics ◽  
Isolation By Distance ◽  
Spatial Genetic Structure ◽  
Nucleotide Polymorphisms ◽  
Discrete Events ◽  
Long Distance ◽  
Population Genomic ◽  
Asian Tiger ◽  
Study Designs

AbstractPopulation genomic approaches can characterise dispersal across a single generation through to many generations in the past, bridging the gap between individual movement and intergenerational gene flow. These approaches are particularly useful when investigating dispersal in recently altered systems, where they provide a way of inferring long-distance dispersal between newly established populations and their interactions with existing populations. Human-mediated biological invasions represent such altered systems which can be investigated with appropriate study designs and analyses. Here we apply temporally-restricted sampling and a range of population genomic approaches to investigate dispersal in a 2004 invasion of Aedes albopictus (the Asian tiger mosquito) in the Torres Strait Islands (TSI) of Australia. We sampled mosquitoes from 13 TSI villages simultaneously and genotyped 373 mosquitoes at genome-wide single nucleotide polymorphisms (SNPs): 331 from the TSI, 36 from Papua New Guinea (PNG), and 4 incursive mosquitoes detected in uninvaded regions. Within villages, spatial genetic structure varied substantially but overall displayed isolation by distance and a neighbourhood size of 232–577. Close kin dyads revealed recent movement between islands 31–203 km apart, and deep learning inferences showed incursive Ae. albopictus had travelled to uninvaded regions from both adjacent and non-adjacent islands. Private alleles and a coancestry matrix indicated direct gene flow from PNG into nearby islands. Outlier analyses also detected four linked alleles introgressed from PNG, with the alleles surrounding 12 resistance-associated cytochrome P450 genes. By treating dispersal as both an intergenerational process and a set of discrete events, we describe a highly interconnected invasive system.

scholarly journals Population Genomic- and Phylogenomic-Enabled Advances to Increase Insight Into Pathogen Biology and Epidemiology

2021 ◽  
Vol 111 (1) ◽  
pp. 8-11
Author(s):  
Remco Stam ◽  
Pierre Gladieux ◽  
Boris A. Vinatzer ◽  
Erica M. Goss ◽  
Neha Potnis ◽  
...  
Keyword(s):  
Population Genetics ◽  
Population Genomics ◽  
Cost Effective ◽  
Whole Genome ◽  
Genome Data ◽  
Sequencing Technologies ◽  
Population Genomic ◽  
High Throughput Dna Sequencing ◽  
Opening Up ◽  
Insight Into

Population genetics has been a key discipline in phytopathology for many years. The recent rise in cost-effective, high-throughput DNA sequencing technologies, allows sequencing of dozens, if not hundreds of specimens, turning population genetics into population genomics and opening up new, exciting opportunities as described in this Focus Issue . Without the limitations of genetic markers and the availability of whole or near whole-genome data, population genomics can give new insights into the biology, evolution and adaptation, and dissemination patterns of plant-associated microbes.

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