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.
Author
Translational Genomics Research InstituteORCID 0000-0001-5121-770XUnclaimed ORCID profile · follow to get notified of new preprints
6 papers
Recent·Most cited
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.
Julian Lucas, Prajna Hebbar, Wen‐Wei Liao…·Jane E. Loveland
460 haplotypes from 230 genomes, selected to maximize common-variant coverage, capture 99.43% of All of Us common small variants and halve structurally unreliable regions and base errors versus HPRC1.
Justin Wagner, Ayşe Gökçe Keşküş, Keisuke K. Oshima…·Justin M. Zook
This paper presents near-complete, haplotype-resolved assemblies of a pancreatic cancer genome and normal tissue, identifying extensive somatic variants and epigenetic changes in previously excluded regions.
Maryam Jehangir, Syed Farhan Ahmad, Jordana Inácio Nascimento Oliveira…·Cesar Martins
The paper presents a chromosome-level genome assembly of Astatotilapia latifasciata, revealing a B chromosome with unique gene content and chromatin structure.
Maryam Jehangir, Kristen L. Drucker, Ayşe Gökçe Keşküş…·Floris P Barthel
This study uses long-read sequencing to show that telomere length differences between chromosome arms influence structural genome changes in IDH-mutant astrocytomas.
T. Rhyker Ranallo-Benavidez, Yue Hao, Emilia Volpe…·Floris P Barthel
The paper presents diploid genome assemblies for two human fibroblast cell lines, enabling clone-specific variant calling, improved read mapping, and accurate phasing.