Search Results - "Logsdon GA"

Author Correction: Complex genetic variation in nearly complete human genomes.

Authors: Logsdon GA Ebert P Audano PA et al.

Source: Nature [Nature] 2025 Sep; Vol. 645 (8081), pp. E6.

Publication Type: Published Erratum

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE; In Process

Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study.

Authors: El Chehadeh, Salima Heide, Solveig Quélin, Chloé et al.

Source: Genome Medicine. 10/3/2025, Vol. 17 Issue 1, p1-28. 28p.

ntStat: k-mer characterization using occurrence statistics in raw sequencing data.

Authors: Kazemi, Parham Coombe, Lauren Warren, René L. et al.

Source: PLoS Computational Biology. 4/1/2026, Vol. 22 Issue 4, p1-15. 15p.

Towards a unified model of aneuploid karyotype dynamics.

Authors: Hénault, Mathieu Wood, Lisa M. Heasley, Lydia R.

Source: PLoS Genetics. 6/18/2026, Vol. 22 Issue 6, p1-29. 29p.

Structural and transduction patterns of human-specific polymorphic SVA insertions.

Authors: Kirby, Ashley E. Loftus, Mark Golba, Emily C. et al.

Source: Mobile DNA. 11/6/2025, Vol. 16 Issue 1, p1-16. 16p.

Young KRAB-zinc finger gene clusters are highly dynamic incubators of ERV-driven genetic heterogeneity in mice.

Authors: Bruno M Farhana SM Mitra A et al.

Source: Nature communications [Nat Commun] 2025 Oct 30; Vol. 16 (1), pp. 9608. Date of Electronic Publication: 2025 Oct 30.

Publication Type: Journal Article

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

AIEdit: Alignment-free genome assembly polisher trained on spaced seed match patterns.

Authors: Kazemi, Parham Sánchez Olivares, Ivana Warren, René L. et al.

Source: PLoS Computational Biology. 5/6/2026, Vol. 22 Issue 5, p1-12. 12p.

A complete human pancreatic cancer genome.

Authors: Wagner J Keskus AG Oshima KK et al.

Source: BioRxiv : the preprint server for biology [bioRxiv] 2026 May 10. Date of Electronic Publication: 2026 May 10.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

A segmental duplication-mediated deletion leads to neocentromere formation in orangutans.

Authors: de Gennaro L Yoo D Pistacchia L et al.

Source: BioRxiv : the preprint server for biology [bioRxiv] 2026 Apr 11. Date of Electronic Publication: 2026 Apr 11.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

Genome-wide selection inference at short tandem repeats.

Authors: Huang, Bonnie Durvasula, Arun Mousavi, Nima et al.

Source: PLoS Genetics. 12/1/2025, Vol. 21 Issue 12, p1-23. 23p.

TEvarSim: A genome simulator for transposable element (TE) variants.

Authors: Miao, Jian Li, Dawei

Source: PLoS Computational Biology. 1/30/2026, Vol. 22 Issue 1, p1-14. 14p.

LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants.

Authors: Lu, Jinfeng Toro, Camilo Adams, David R. et al.

Source: BMC Genomics. 1/26/2024, Vol. 25 Issue 1, p1-22. 22p.

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Noncoding RNAs in nuclear organization.

Authors: Dube, Thembalami Carone, Dawn M.

Source: Nucleus (1949-1034). Dec2025, Vol. 16 Issue 1, p1-4. 4p.

Ending diagnostic odyssey by reanalysis of whole exome sequencing data: reclassification of suspected Fanconi anemia cases to dyskeratosis congenita and Diamond-Blackfan anemia.

Authors: Tejero, Eudald de Haro, María José Ramírez Pujol, Roser et al.

Source: Orphanet Journal of Rare Diseases. 10/14/2025, Vol. 20 Issue 1, p1-10. 10p.

Germline mutation rates and fine-scale recombination parameters in zebra finch.

Authors: Prentout, Djivan Bykova, Daria Hoge, Carla et al.

Source: PLoS Genetics. 4/15/2025, Vol. 21 Issue 4, p1-34. 34p.

Analysis of targeted and whole genome sequencing of PacBio HiFi reads for a comprehensive genotyping of gene-proximal and phenotype-associated Variable Number Tandem Repeats.

Authors: Javadzadeh, Sara Adamson, Aaron Park, Jonghun et al.

Source: PLoS Computational Biology. 4/7/2025, Vol. 21 Issue 4, p1-21. 21p.

TARPON—A Telomere Analysis and Research Pipeline Optimized for Nanopore.

Authors: Deimler, Nathaniel Ho, David V. Paul, Norbert et al.

Source: PLoS Computational Biology. 2/4/2026, Vol. 22 Issue 2, p1-24. 24p.

Phosphorylation of Xenopus M18BP1 governs centromeric localization and CENP-A nucleosome assembly.

Authors: Brown RR Schwartz JP Ghadri L et al.

Source: EMBO reports [EMBO Rep] 2026 Mar; Vol. 27 (6), pp. 1561-1579. Date of Electronic Publication: 2026 Feb 12.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 100963049 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-3178 (Electronic) Linking ISSN: 1469221X NLM ISO Abbreviation: EMBO Rep Subsets: MEDLINE

Familial patellar dislocation and concomitant short stature due to a loss of function in ACAN gene detected by nanopore long-read sequencing.

Authors: Siu, Lisa L. P. Leung, Henry C. M. Ho, Stephanie K. L. et al.

Source: Journal of Rare Diseases. 8/15/2025, Vol. 4 Issue 1, p1-6. 6p.