Biology subjects

Concepcion, G. T.

Publications and source records attributed to Concepcion, G. T..

4 recordsLinked to original sources

bioRxiv2025

Whole Genome Assembly of the Atlantic Bluefin Tuna Thunnus thynnus, with Phased Haplotypes

Atlantic bluefin tuna (Thunnus thynnus) are highly migratory fish, the largest tuna in the genus Thunnus. These fish possess a unique suite of traits, including regional endothermy, in their swimming muscle, viscera, brain and eyes that elevates tissue temperatures significantly above ambient water temperatures. Bluefin tuna also have an efficient thunniform locomotory style, involving a fusiform low drag external shape and a novel musculoskeletal system that enhances elastic energy storage. Together the unique swimming form and warm muscle temperatures enable this species to move across large expanses of the ocean. Atlantic bluefin tuna are targeted by high-value international fisheries of over fifty nations. Populations have recovered in recent years and the species is now actively farmed extensively within the Mediterranean Sea and eastern Atlantic. To date, fisheries management and evolutionary studies have been hampered by a lack of genomic resources. Here, we report a novel de novo chromosome-level phased genome assembly for the Atlantic bluefin tuna obtained using PacBio HiFi reads and Dovetail Omni-C scaffolding. This assembly was scaffolded into 24 chromosomes containing 98% of the genes in the BUSCO reference dataset, demonstrating a high level of contiguity with a contig N50 of 26.54 and assembly size of [~]800Mbp. We compare a diploid-resolved (2N) genome assembly of Atlantic bluefin tuna with a haplotype-collapsed (1N) genome assembly from a Pacific bluefin tuna caught in the eastern Pacific off California. We show the two species have a 98.47% sequence identity. These high-quality genomes for northern bluefin tunas provide the genomic tools necessary for improving phylogenomic and evolutionary physiology analyses of this lineage and are important for potential functional assays for population biology of these commercially important species.

evolutionary biology↗

bioRxiv2023

Assembly and annotation of two high-quality columbid reference genomes from sequencing of a Columba livia x Columba guinea F1 hybrid

Pigeons and doves (family Columbidae) are one of the most diverse extant avian lineages, and many species have served as key models for evolutionary genomics, developmental biology, physiology, and behavioral studies. Building genomic resources for colubids is essential to further many of these studies. Here, we present high-quality genome assemblies and annotations for two columbid species, Columba livia and C. guinea. We simultaneously assembled C. livia and C. guinea genomes from long-read sequencing of a single F1 hybrid individual. The new C. livia genome assembly (Cliv_3) shows improved completeness and contiguity relative to Cliv_2.1, with an annotation incorporating long-read IsoSeq data for more accurate gene models. Intensive selective breeding of C. livia has given rise to hundreds of breeds with diverse morphological and behavioral characteristics, and Cliv_3 offers improved tools for mapping the genomic architecture of interesting traits. The C. guinea genome assembly is the first for this species and is a new resource for avian comparative genomics. Together, these assemblies and annotations provide improved resources for functional studies of columbids and avian comparative genomics in general. ARTICLE SUMMARYPigeons and doves are important models for evolutionary genomics, developmental biology, physiology, and behavioral studies. Here, we present high-quality reference genome assemblies and annotations for two pigeon species, the domestic rock pigeon (Columba livia) and the African speckled pigeon (C. guinea). These assemblies and annotations provide improved resources for both comparative genomics and functional studies.

genomics↗

bioRxiv2019

Improved assembly and variant detection of a haploid human genome using single-molecule, high-fidelity long reads

The sequence and assembly of human genomes using long-read sequencing technologies has revolutionized our understanding of structural variation and genome organization. We compared the accuracy, continuity, and gene annotation of genome assemblies generated from either high-fidelity (HiFi) or continuous long-read (CLR) datasets from the same complete hydatidiform mole human genome. We find that the HiFi sequence data assemble an additional 10% of duplicated regions and more accurately represent the structure of tandem repeats, as validated with orthogonal analyses. As a result, an additional 5 Mbp of pericentromeric sequences are recovered in the HiFi assembly, resulting in a 2.5-fold increase in the NG50 within 1 Mbp of the centromere (HiFi 480.6 kbp, CLR 191.5 kbp). Additionally, the HiFi genome assembly was generated in significantly less time with fewer computational resources than the CLR assembly. Although the HiFi assembly has significantly improved continuity and accuracy in many complex regions of the genome, it still falls short of the assembly of centromeric DNA and the largest regions of segmental duplication using existing assemblers. Despite these shortcomings, our results suggest that HiFi may be the most effective stand-alone technology for de novo assembly of human genomes.

genomics↗

bioRxiv2019

Highly-accurate long-read sequencing improves variant detection and assembly of a human genome

The major DNA sequencing technologies in use today produce either highly-accurate short reads or noisy long reads. We developed a protocol based on single-molecule, circular consensus sequencing (CCS) to generate highly-accurate (99.8%) long reads averaging 13.5 kb and applied it to sequence the well-characterized human HG002/NA24385. We optimized existing tools to comprehensively detect variants, achieving precision and recall above 99.91% for SNVs, 95.98% for indels, and 95.99% for structural variants. We estimate that 2,434 discordances are correctable mistakes in the high-quality Genome in a Bottle benchmark. Nearly all (99.64%) variants are phased into haplotypes, which further improves variant detection. De novo assembly produces a highly contiguous and accurate genome with contig N50 above 15 Mb and concordance of 99.998%. CCS reads match short reads for small variant detection, while enabling structural variant detection and de novo assembly at similar contiguity and markedly higher concordance than noisy long reads.

genomics↗