Searching journal content for articles similar to Lanar and Kain 4 (2): S92.

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  1. Research: Assessing the readiness of Oxford Nanopore sequencing for clinical genomics applications
    • Judith Arres,
    • Santosh Elavalli,
    • Shalini Behl,
    • Daniel Matias Sanchez,
    • Ayesha Al Ali,
    • Abdelrahman Ahmed Yehia Abdelaziz Saad,
    • Azza Attia,
    • Cyla Minas,
    • Sharika Pariyachery,
    • Shariq Ahmed,
    • Fatmah Aldhuhoori,
    • Nitu Thulasidharan,
    • Gurunath Katagi,
    • Omar Soliman,
    • Shilp Purohit,
    • Vinay Kusuma,
    • Raony Cardenas,
    • Thyago Cardoso,
    • Luis F. Paulin,
    • Philippe Sanio,
    • Joseph Mafofo,
    • Haiguo Wu,
    • Val Zvereff,
    • Albarah El-Khani,
    • Fahed Al Marzooqi,
    • Tiago R. Magalhães,
    • Fritz J. Sedlazeck,
    • and Javier Quilez
    Genome Res. March 2026 36: 460-471; Published in Advance February 11, 2026, doi:10.1101/gr.280134.124
    ...annotation for a cystic fibrosis–causing indel in GM07829. This work underscores the growing readiness of ONT for clinical applications, highlighting both its advancements and its potential for broader adoption in clinical genomics and large-scale operations.The advent of long-read sequencing (LRS) enabled...
  2. Review: Advancements in prospective single-cell lineage barcoding and their applications in research
    • Xiaoli Zhang,
    • Yirui Huang,
    • Yajing Yang,
    • Qi-En Wang,
    • and Lang Li
    Genome Res. December 2024 34: 2147-2162; Published in Advance November 21, 2024, doi:10.1101/gr.278944.124
    ...simultaneous detection of cell state transition, clonal relationship, and elucidation of the molecular mechanisms in cell fate determination (Chen et al. 2022). While there has been extensive discussions on the fundamental concepts, computational tools, and applications of scLT (Kester and van Oudenaarden 2018...
    OPEN ACCESS ARTICLE
  3. Perspective: Applications of single-cell genomics and computational strategies to study common disease and population-level variation
    • Benjamin J. Auerbach,
    • Jian Hu,
    • Muredach P. Reilly,
    • and Mingyao Li
    Genome Res. October 2021 31: 1728-1741; doi:10.1101/gr.275430.121
    ...-cell technologies offer opportunities to characterize cellular heterogeneity from different angles, but how to link cellular heterogeneity with disease phenotypes requires careful computational analysis. In this article, we will review the current applications of single-cell methods in human disease studies...
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  4. Method: Efficient computation of Faith's phylogenetic diversity with applications in characterizing microbiomes
    • George Armstrong,
    • Kalen Cantrell,
    • Shi Huang,
    • Daniel McDonald,
    • Niina Haiminen,
    • Anna Paola Carrieri,
    • Qiyun Zhu,
    • Antonio Gonzalez,
    • Imran McGrath,
    • Kristen L. Beck,
    • Daniel Hakim,
    • Aki S. Havulinna,
    • Guillaume Méric,
    • Teemu Niiranen,
    • Leo Lahti,
    • Veikko Salomaa,
    • Mohit Jain,
    • Michael Inouye,
    • Austin D. Swafford,
    • Ho-Cheol Kim,
    • Laxmi Parida,
    • Yoshiki Vázquez-Baeza,
    • and Rob Knight
    Genome Res. November 2021 31: 2131-2137; Published in Advance September 3, 2021, doi:10.1101/gr.275777.121
    ...sequencing. Recent molecular protocol optimizations, such as SHOGUN (Hillmann et al. 2018), have enabled the metagenomic characterization of large human cohorts (Borodulin et al. 2015; Kaplan et al. 2019; Salosensaari et al. 2021). In this context, the applicability of Faith's PD has largely been limited...
  5. REVIEW: Ligase chain reaction (LCR)--overview and applications.
    • M Wiedmann,
    • W J Wilson,
    • J Czajka,
    • J Luo,
    • F Barany,
    • and C A Batt
    Genome Res. February 1994 3: S51-S64
    ...WJ Wilson C A Batt Batt, C F Barany F, Barany M Wiedmann Wilson, WJ Wiedmann M Czajka, J Wiedmann 1088-9051 genome;3/4/S51 Ligase chain reaction (LCR)--overview and applications. Ligase chain reaction (LCR)--overview and applications. M Wiedmann , W J Wilson , J Czajka , J Luo , F Barany , and C...
  6. Resource: A method for detecting IBD regions simultaneously in multiple individuals—with applications to disease genetics
    • Ida Moltke,
    • Anders Albrechtsen,
    • Thomas v.O. Hansen,
    • Finn C. Nielsen,
    • and Rasmus Nielsen
    Genome Res. July 2011 21: 1168-1180; Published in Advance April 14, 2011, doi:10.1101/gr.115360.110
    ...A method for detecting IBD regions simultaneously in multiple individuals—with applications to disease genetics Ida Moltke 1 , 4 , Anders Albrechtsen 1 , Thomas v.O. Hansen 2 , Finn C. Nielsen 2 and Rasmus Nielsen 1 , 3 1...
  7. Method: Accurate typing of short tandem repeats from genome-wide sequencing data and its applications
    • Arkarachai Fungtammasan,
    • Guruprasad Ananda,
    • Suzanne E. Hile,
    • Marcia Shu-Wei Su,
    • Chen Sun,
    • Robert Harris,
    • Paul Medvedev,
    • Kristin Eckert,
    • and Kateryna D. Makova
    Genome Res. May 2015 25: 736-749; Published in Advance March 30, 2015, doi:10.1101/gr.185892.114
    ...Accurate typing of short tandem repeats from genome-wide sequencing data and its applications Arkarachai Fungtammasan 1 , 2 , 3 , 4 , 8 , Guruprasad Ananda 1 , 3 , 4 , 5 , 8 , 9 , Suzanne E. Hile 3 , 6 , Marcia Shu-Wei Su 2 , 3...
  8. Method: Secure phasing of private genomes in a trusted execution environment with TX-Phase
    • Natnatee Dokmai,
    • Kaiyuan Zhu,
    • S. Cenk Sahinalp,
    • and Hyunghoon Cho
    Genome Res. December 2025 35: 2626-2636; Published in Advance November 12, 2025, doi:10.1101/gr.280558.125
    ...because a side-channel leakage could be exploited to extract sensitive genomic data processed within a TEE (Brasser et al. 2017; Dokmai et al. 2021). These limitations have, thus far, hindered the practical application of privacy-preserving phasing technologies.In this work, we introduce TX...
    OPEN ACCESS ARTICLE
  9. REVIEW: Overview of international PCR standardization efforts.
    • L E Bockstahler
    Genome Res. April 1994 3: 263-267
    ...Bockstahler, LE L.E. Bockstahler L E, Bockstahler L Bockstahler Bockstahler L E Bockstahler L E Bockstahler, L.E Bockstahler, L Bockstahler, L E LE Bockstahler L E Bockstahler 1088-9051 genome;3/5/263 Overview of international PCR standardization efforts. Overview of international PCR...
  10. ENSEMBL Special: An Overview of Ensembl
    • Ewan Birney,
    • T. Daniel Andrews,
    • Paul Bevan,
    • Mario Caccamo,
    • Yuan Chen,
    • Laura Clarke,
    • Guy Coates,
    • James Cuff,
    • Val Curwen,
    • Tim Cutts,
    • Thomas Down,
    • Eduardo Eyras,
    • Xose M. Fernandez-Suarez,
    • Paul Gane,
    • Brian Gibbins,
    • James Gilbert,
    • Martin Hammond,
    • Hans-Rudolf Hotz,
    • Vivek Iyer,
    • Kerstin Jekosch,
    • Andreas Kahari,
    • Arek Kasprzyk,
    • Damian Keefe,
    • Stephen Keenan,
    • Heikki Lehvaslaiho,
    • Graham McVicker,
    • Craig Melsopp,
    • Patrick Meidl,
    • Emmanuel Mongin,
    • Roger Pettett,
    • Simon Potter,
    • Glenn Proctor,
    • Mark Rae,
    • Steve Searle,
    • Guy Slater,
    • Damian Smedley,
    • James Smith,
    • Will Spooner,
    • Arne Stabenau,
    • James Stalker,
    • Roy Storey,
    • Abel Ureta-Vidal,
    • K. Cara Woodwark,
    • Graham Cameron,
    • Richard Durbin,
    • Anthony Cox,
    • Tim Hubbard,
    • and Michele Clamp
    Genome Res. May 2004 14: 925-928; Published in Advance April 12, 2004, doi:10.1101/gr.1860604
    ...An Overview of Ensembl Ewan Birney 1 , 3 , T. Daniel Andrews 2 , Paul Bevan 2 , Mario Caccamo 2 , Yuan Chen 1 , Laura Clarke 2 , Guy Coates 2 , James Cuff 2 , Val Curwen 2 , Tim Cutts 2...
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