GBZ-base and GAF-base: Indexed pangenome file formats
Jouni Sirén, Benedict Paten, Derek Albracht…·Sergey Koren
The paper introduces GBZ-base and GAF-base, indexed pangenome file formats for efficient subgraph and alignment extraction.
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Centre National de la Recherche ScientifiqueORCID 0000-0002-7306-6532Unclaimed ORCID profile · follow to get notified of new preprints
14 papers
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Jouni Sirén, Benedict Paten, Derek Albracht…·Sergey Koren
The paper introduces GBZ-base and GAF-base, indexed pangenome file formats for efficient subgraph and alignment extraction.
David Porubskỳ, DongAhn Yoo, Nidhi Koundinya…·Todd L. Hillaker
The paper analyzes chromosome 22q11.2 haplotypes to show how structural variations in specific regions correlate with microdeletion and inversion risks across populations.
Yang Sui, Jiadong Lin, Michelle D. Noyes…·Glenn Hickey
The paper uses long-read sequencing to identify pathogenic variants in autism cases, finding three pathogenic mutations and nine candidate structural variants missed by short-read sequencing.
Chloe Sasson, Julien Capin, Quentin Boussau…·Jerome Bonnet
This paper introduces a synthetic biology framework that enables tunable differentiation ratios in microbial consortia, validated in a mouse tumor model.
Hamilcar Keilani, Anna-Sophie Fiston-Lavier, Pierre Caminade…·Carole M. Smadja
This study uses genomic data from a Southern African rodent to show how aridity influences genetic divergence and population connectivity, with genes related to water conservation and neurotransmission identified.
Tomás Carrasco-Valenzuela, Alba Marino, Jessica M. Storer…·Anna-Sophie Fiston-Lavier
This study compares manual and automated methods for transposable element annotation in Drosophila melanogaster and Aedes albopictus, finding that automated methods identify more TEs but manual curation provides more detailed classifications.
Alba Marino, Gautier Debaecker, Anna-Sophie Fiston-Lavier…·Benoît Nabholz
The paper examines the relationship between effective population size and genome size variation in animals, finding no evidence that genetic drift drives TE accumulation across species.
Nurul Novelia Fuandila, Anne-Sophie Gosselin Grenet, Marie‐Ka Tilak…·Emira Chérif
This study investigates structural variation (SV) diversity and dynamics in CyHV-3 genome during serial passages, finding SV turnovers and defective genomes drive in vitro evolution.
Mourdas Mohamed, François Sabot, Marion Varoqui…·Séverine Chambeyron
TrEMOLO estimates transposable element allele frequencies using long-read sequencing data by combining assembly and mapping approaches, outperforming existing tools in benchmark tests.
Roberto Xavier, Anna-Sophie Fiston-Lavier, Ronnie Cley de Oliveira Alves, Emira Chérif
RF4Del is a random forest method for accurate deletion detection that outperforms existing tools and is robust to sequencing coverage and deletion size variations.
Yasmine Mansour, Annie Château, Anna-Sophie Fiston-Lavier
BREC identifies heterochromatin boundaries and estimates local recombination rates using statistical methods, validated on Drosophila melanogaster data.
Léa Pradier, Tazzio Tissot, Anna-Sophie Fiston-Lavier, Stéphanie Bedhomme
PlasForest detects plasmids in unassembled bacterial genomes with high accuracy and outperforms existing tools.
Xiaowei Zhu, Bo Zhou, Reenal Pattni…·Gary W. Mathern
The paper introduces a machine learning method to detect somatic L1 insertions in human brain tissue, revealing their widespread distribution in neurons and glia and potential role in neuropsychiatric diseases.