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Familial thrombocytopenia due to a complex structural variant resulting ina WAC-ANKRD26 fusion transcript. Wahlster, Lara and Verboon, Jeffrey M and Ludwig, Leif S and Black, Susan Cand Luo, Wendy and Garg, Kopal and Voit, Richard A and Collins, Ryan L andGarimella, Kiran and Costello, Maura and Chao, Katherine R and Goodrich,Julia K and DiTroia, Stephanie Advances in genome sequencing have resulted in the identification of the causes for numerous rare diseases. However, many cases remain unsolved with standard molecular analyses. We describe a family presenting with a phenotype resembling inherited thrombocytopenia 2 (THC2). THC2 is generally caused by single nucleot... |
PCIP-seq: simultaneous sequencing of integrated viral genomes and theirinsertion sites with long reads. Artesi, M. et al. The integration of a viral genome into the host genome has a major impact on the trajectory of the infected cell. Integration location and variation within the associated viral genome can influence both clonal expansion and persistence of infected cells. Methods based on short-read sequencing can identify viral inse... |
Complete vertebrate mitogenomes reveal widespread repeats and geneduplications. Formenti G. et al. BACKGROUND: Modern sequencing technologies should make the assembly of the relatively small mitochondrial genomes an easy undertaking. However, few tools exist that address mitochondrial assembly directly. RESULTS: As part of the Vertebrate Genomes Project (VGP) we develop mitoVGP, a fully automated pipeline for sim... |
Comparison of long read sequencing technologies in interrogating bacteriaand fly genomes. Tvedte, Eric S and Gasser, Mark and Sparklin, Benjamin C and Michalski,Jane and Hjelmen, Carl E and Johnston, J Spencer and Zhao, Xuechu andBromley, Robin and Tallon, Luke J and Sadzewicz, Lisa and Rasko, David Aand Hotopp, Julie C Dunning The newest generation of DNA sequencing technology is highlighted by the ability to generate sequence reads hundreds of kilobases in length. Pacific Biosciences (PacBio) and Oxford Nanopore Technologies (ONT) have pioneered competitive long read platforms, with more recent work focused on improving sequencing throug... |
A single nucleotide polymorphism variant located in the cis-regulatoryregion of the ABCG2 gene is associated with mallard egg colour. Liu H. et al. Avian egg coloration is shaped by natural selection, but its genetic basis remains unclear. Here, we used genome-wide association analysis and identity by descent to finely map green egg colour to a 179-kb region of Chr4 based on the resequencing of 352 ducks (Anas platyrhynchos) from a segregating population result... |
Chromosome-scale genome assembly provides insights into the evolution andflavor synthesis of passion fruit (Passiflora edulis Sims). Xia Z. et al. Passion fruit (Passiflora edulis Sims) is an economically valuable fruit that is cultivated in tropical and subtropical regions of the world. Here, we report an ~1341.7 Mb chromosome-scale genome assembly of passion fruit, with 98.91\% (~1327.18 Mb) of the assembly assigned to nine pseudochromosomes. T... |
Rapid and ongoing evolution of repetitive sequence structures in humancentromeres. Suzuki Y. et al. Our understanding of centromere sequence variation across human populations is limited by its extremely long nested repeat structures called higher-order repeats that are challenging to sequence. Here, we analyzed chromosomes 11, 17, and X using long-read sequencing data for 36 individuals from diverse populations i... |
Efficient hybrid de novo assembly of human genomes with WENGAN. Di Genova A. et al. Generating accurate genome assemblies of large, repeat-rich human genomes has proved difficult using only long, error-prone reads, and most human genomes assembled from long reads add accurate short reads to polish the consensus sequence. Here we report an algorithm for hybrid assembly, WENGAN, that provides very hi... |
Complete Genome Sequence of sp. Strain Nx66, Isolated from WatersContaminated with Petrochemicals in El Saf-Saf Valley, Algeria. Chéraiti, Nardjess and Plewniak, Frédéric and Tighidet, Salima andSayeh, Amalia and Gil, Lisa and Malherbe, Ludivine and Memmi, Yosr andZilliox, Laurence and Vandecasteele, Céline and Boyer, Pierre andLopez-Roques, Céline and Jaulhac, Benoît and Bensou sp. strain Nx66 was isolated from waters contaminated by petrochemical effluents collected in Algeria. Its genome was sequenced using Illumina MiSeq (2 × 150-bp read pairs) and Oxford Nanopore (long reads) technologies and was assembled using Unicycler. It is composed of one chromosome of 3.42 Mb and on... |
Contrasting signatures of genomic divergence during sympatric speciation. Kautt, Andreas F and Kratochwil, Claudius F and Nater, Alexander andMachado-Schiaffino, Gonzalo and Olave, Melisa and Henning, Frederico andTorres-Dowdall, Julián and Härer, Andreas and Hulsey, C Darrin andFranchini, Paolo and Pippel, Martin and Myers, The transition from 'well-marked varieties' of a single species into 'well-defined species'-especially in the absence of geographic barriers to gene flow (sympatric speciation)-has puzzled evolutionary biologists ever since Darwin. Gene flow counteracts the buildup of genome-wide differentiation, which is a hallmark... |
Genome structure and content of the rice root-knot nematode (). Phan, Ngan Thi and Orjuela, Julie and Danchin, Etienne G J and Klopp,Christophe and Perfus-Barbeoch, Laetitia and Kozlowski, Djampa K andKoutsovoulos, Georgios D and Lopez-Roques, Céline and Bouchez, Olivier andZahm, Margot and Besnard, Guillaume and B Discovered in the 1960s, is a root-knot nematode species considered as a major threat to rice production. Yet, its origin, genomic structure, and intraspecific diversity are poorly understood. So far, such studies have been limited by the unavailability of a sufficiently complete and well-assembled genome. In this s... |
Repeat expansions confer WRN dependence in microsatellite-unstablecancers. van Wietmarschen, Niek and Sridharan, Sriram and Nathan, William J andTubbs, Anthony and Chan, Edmond M and Callen, Elsa and Wu, Wei and Belinky,Frida and Tripathi, Veenu and Wong, Nancy and Foster, Kyla and Noorbakhsh,Javad and Garimella, Kiran and Cr The RecQ DNA helicase WRN is a synthetic lethal target for cancer cells with microsatellite instability (MSI), a form of genetic hypermutability that arises from impaired mismatch repair. Depletion of WRN induces widespread DNA double-strand breaks in MSI cells, leading to cell cycle arrest and/or apoptosis. However... |
Breakpoint mapping of a t(9;22;12) chronic myeloid leukaemia patient withe14a3 BCR-ABL1 transcript using Nanopore sequencing. Zhao, Hu and Chen, Yuan and Shen, Chanjuan and Li, Lingshu and Li, Qingzhaoand Tan, Kui and Huang, Huang and Hu, Guoyu BACKGROUND: The genetic changes in chronic myeloid leukaemia (CML) have been well established, although challenges persist in cases with rare fusion transcripts or complex variant translocations. Here, we present a CML patient with e14a3 BCR-ABL1 transcript and t(9;22;12) variant Philadelphia (Ph) chromosome. METHOD... |
Interruption of an MSH4 homolog blocks meiosis in metaphase I andeliminates spore formation in Pleurotus ostreatus. Lavrijssen, Brian and Baars, Johan P and Lugones, Luis G and Scholtmeijer,Karin and Sedaghat Telgerd, Narges and Sonnenberg, Anton S M and van Peer,Arend F Pleurotus ostreatus, one of the most widely cultivated edible mushrooms, produces high numbers of spores causing severe respiratory health problems for people, clogging of filters and spoilage of produce. A non-sporulating commercial variety (SPOPPO) has been successfully introduced into the market in 2006. This var... |