Publications by authors named "Ann McCartney"

Article Synopsis
  • The European Reference Genome Atlas (ERGA) consortium seeks to create a comprehensive reference genome catalogue for all eukaryotic species in Europe, utilizing a collaborative network for sample collection.
  • The ERGA Pilot project highlights the consortium's capabilities by establishing the Sampling and Sample Processing committee (SSP), which focuses on setting standards, prioritizing species for genome sequencing, and developing collection guidelines.
  • The manuscript shares insights on implementing standardized procedures and best practices, showcasing the importance of FAIR and CARE principles in enhancing genomic resource support and workflow efficiency.
View Article and Find Full Text PDF

We present a reference genome assembly from an individual male Violet Carpenter Bee (Xylocopa violacea, Linnaeus 1758). The assembly is 1.02 gigabases in span.

View Article and Find Full Text PDF

Rewarewa (Knightia excelsa, Proteaceae) is a tree species endemic to Aotearoa New Zealand, with a natural distribution spanning Te Ika-a-Māui (North Island) and the top of Te Waipounamu (South Island). We used the pseudo-chromosome genome assembly of rewarewa as a reference and whole genome pooled sequencing from 35 populations sampled across Aotearoa New Zealand, including trees growing on Māori-owned land, to identify 1,443,255 single nucleotide polymorphisms (SNPs). Four genetic clusters located in the northern North Island (NNI), eastern North Island (NIE), western and southern North Island (NIWS), and the South Island (SI) were identified.

View Article and Find Full Text PDF

Here the Human Pangenome Reference Consortium presents a first draft of the human pangenome reference. The pangenome contains 47 phased, diploid assemblies from a cohort of genetically diverse individuals. These assemblies cover more than 99% of the expected sequence in each genome and are more than 99% accurate at the structural and base pair levels.

View Article and Find Full Text PDF

Since its initial release in 2000, the human reference genome has covered only the euchromatic fraction of the genome, leaving important heterochromatic regions unfinished. Addressing the remaining 8% of the genome, the Telomere-to-Telomere (T2T) Consortium presents a complete 3.055 billion-base pair sequence of a human genome, T2T-CHM13, that includes gapless assemblies for all chromosomes except Y, corrects errors in the prior references, and introduces nearly 200 million base pairs of sequence containing 1956 gene predictions, 99 of which are predicted to be protein coding.

View Article and Find Full Text PDF

Existing human genome assemblies have almost entirely excluded repetitive sequences within and near centromeres, limiting our understanding of their organization, evolution, and functions, which include facilitating proper chromosome segregation. Now, a complete, telomere-to-telomere human genome assembly (T2T-CHM13) has enabled us to comprehensively characterize pericentromeric and centromeric repeats, which constitute 6.2% of the genome (189.

View Article and Find Full Text PDF
Article Synopsis
  • * Key concerns include legal matters like sample collection, international treaties (e.g., Convention on Biological Diversity), and intellectual property, as well as ethical issues involving Indigenous peoples, endangered species, and cross-border collections.
  • * The EBP's Ethical, Legal, and Social Issues Committee emphasizes the need for an ethical framework to address these challenges and suggests that their findings could aid in developing guidelines for future genomic projects.
View Article and Find Full Text PDF
Article Synopsis
  • Researchers used long read sequencing data from the Knightia excelsa tree, which is important culturally and commercially in New Zealand, to investigate how data type and workflows affect genome assembly accuracy.
  • They found that longer read lengths with lower coverage tended to yield better assemblies compared to shorter reads with higher coverage, highlighting the need for tailored assembly workflows.
  • Their study emphasized the significance of quality metrics in genome assembly and indicated that problems in initial assemblies could not always be fixed by additional data, underscoring the importance of high-quality initial contigs.
View Article and Find Full Text PDF

Gene fusion occurs when two or more individual genes with independent open reading frames becoming juxtaposed under the same open reading frame creating a new fused gene. A small number of gene fusions described in detail have been associated with novel functions, for example, the hominid-specific PIPSL gene, TNFSF12, and the TWE-PRIL gene family. We use Sequence Similarity Networks and species level comparisons of great ape genomes to identify 45 new genes that have emerged by transcriptional readthrough, that is, transcription-derived gene fusion.

View Article and Find Full Text PDF

Objective: Prostacyclin and thromboxane mediate opposing cardiovascular actions through receptors termed IP and TP, respectively. When dimerized with IP, the TP shifts to IP-like function. IP localizes to cholesterol-enriched membrane rafts, but TP and IPTP heterodimer localization is not defined.

View Article and Find Full Text PDF