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  1. Whole genome sequencing of families diagnosed with cardiac channelopathies reveals structural variants missed by whole exome sequencing

    Cardiac channelopathies are a group of heritable disorders that affect the heart’s electrical activity due to genetic variations present in genes...

    Vigneshwar Senthivel, Bani Jolly, ... Sridhar Sivasubbu in Journal of Human Genetics
    Article 18 June 2024
  2. Caveats for Watermelon Whole Genome Sequencing

    Watermelon is a highly important vegetable crop species worldwide, with its abundance of genetic resources aiding in identifying mechanisms and...
    Purushothaman Natarajan, Padma Nimmakayala, ... Umesh K. Reddy in The Watermelon Genome
    Chapter 2023
  3. A pipeline for sample tagging of whole genome bisulfite sequencing data using genotypes of whole genome sequencing

    Background

    In large-scale high-throughput sequencing projects and biobank construction, sample tagging is essential to prevent sample mix-ups. Despite...

    Zhe Xu, Si Cheng, ... Yongjun Wang in BMC Genomics
    Article Open access 23 June 2023
  4. Analyzing somatic mutations by single-cell whole-genome sequencing

    Somatic mutations are the cause of cancer and have been implicated in other, noncancerous diseases and aging. While clonally expanded mutations can...

    Lei Zhang, Moonsook Lee, ... **ao Dong in Nature Protocols
    Article 23 November 2023
  5. Whole genome sequencing in clinical practice

    Whole genome sequencing (WGS) is becoming the preferred method for molecular genetic diagnosis of rare and unknown diseases and for identification of...

    Frederik Otzen Bagger, Line Borgwardt, ... Finn Cilius Nielsen in BMC Medical Genomics
    Article Open access 29 January 2024
  6. Whole-genome sequencing in medicinal plants: current progress and prospect

    Advancements in genomics have dramatically accelerated the research on medicinal plants, and the development of herbgenomics has promoted the...

    Yifei Pei, Liang Leng, ... Shilin Chen in Science China Life Sciences
    Article 12 October 2023
  7. A cost-effective sequencing method for genetic studies combining high-depth whole exome and low-depth whole genome

    Whole genome sequencing (WGS) at high-depth (30X) allows the accurate discovery of variants in the coding and non-coding DNA regions and helps...

    Claude Bhérer, Robert Eveleigh, ... Daniel Taliun in npj Genomic Medicine
    Article Open access 07 February 2024
  8. Construction of high coverage whole-genome sequencing libraries from single colon crypts without DNA extraction or whole-genome amplification

    Objective

    Comprehensive and reliable genome-wide variant analysis of a small number of cells has been challenging due to genome coverage bias, PCR...

    Zarko Manojlovic, Jordan Wlodarczyk, ... Chih-Lin Hsieh in BMC Research Notes
    Article Open access 27 April 2023
  9. Targeted Whole Genome Sequencing of the Capripoxvirus Genome from Clinical Tissue Samples and Lyophilized Vaccine Batches

    Diseases caused by Capripoxviruses (CaPVs) are of great economic importance in sheep, goats, and cattle. Since CaPV strains are serologically...
    Elisabeth Mathijs, Frank Vandenbussche in Viral Metagenomics
    Protocol 2024
  10. Whole Genome Sequencing for Outbreak Investigation

    The pairing of whole genome microbial sequencing with epidemiological data provides powerful, high-resolution data that can inform investigations...
    Augusto Dulanto Chiang, Tara N. Palmore in Infection Prevention
    Chapter 2022
  11. Bayesian cost-effectiveness analysis of Whole genome sequencing versus Whole exome sequencing in a pediatric population with suspected genetic disorders

    Genetic diseases are medical conditions caused by sequence or structural changes in an individual’s genome. Whole exome sequencing (WES) and whole...

    Mario Cesare Nurchis, Francesca Clementina Radio, ... Gianfranco Damiani in The European Journal of Health Economics
    Article Open access 17 November 2023
  12. Whole Genome Sequencing Applications in Hospital Epidemiology and Infection Prevention

    Purpose of Review

    Whole genome sequencing is increasingly used in epidemiologic surveillance in healthcare centers, shedding new light on the...

    Michelle Doll, Alexandra L. Bryson, Tara N. Palmore in Current Infectious Disease Reports
    Article Open access 19 January 2024
  13. Whole Genome Sequencing for Food Safety, Clinical and Public Health Microbiology

    Whole genome sequencing (WGS) has become the new technological standard in public health surveillance and disease control systems worldwide. WGS...
    Adriana Cabal, Beatriz Prieto, ... Werner Ruppitsch in MEDICON’23 and CMBEBIH’23
    Conference paper 2024
  14. What Whole Genome Sequencing Has Told Us About Pathogenic Vibrios

    When the first microbial genome sequences were published just 20 years ago, our understanding regarding the microbial world changed dramatically. The...
    Dawn Yan Lam Lau, Jose Roberto Aguirre Sánchez, ... Jaime Martinez-Urtaza in Vibrio spp. Infections
    Chapter 2023
  15. Novel ITPA variants identified by whole genome sequencing and RNA sequencing

    Approximately 80% of rare diseases have a genetic cause, and an accurate genetic diagnosis is necessary for disease management, prognosis prediction,...

    Nanako Omichi, Yoshihito Kishita, ... Yasushi Okazaki in Journal of Human Genetics
    Article 29 May 2023
  16. Optimized whole-genome sequencing workflow for tumor diagnostics in routine pathology practice

    Two decades after the genomics revolution, oncology is rapidly transforming into a genome-driven discipline, yet routine cancer diagnostics is still...

    Kris G. Samsom, Linda J. W. Bosch, ... Kim Monkhorst in Nature Protocols
    Article 13 December 2023
  17. Universal whole-genome Oxford nanopore sequencing of SARS-CoV-2 using tiled amplicons

    We developed a comprehensive multiplexed set of primers adapted for the Oxford Nanopore Rapid Barcoding library kit that allows universal SARS-CoV-2...

    Ruslan Kalendar, Ulykbek Kairov, ... Dos Sarbassov in Scientific Reports
    Article Open access 26 June 2023
  18. Data of whole-genome sequencing of Karakul, Zel, and Kermani sheep breeds

    Objective

    The data provided herein represent the whole-genome sequencing data associated with three sheep breeds of Iranian native breeds. Sheep are...

    Leila Mohammadipour Saadatabadi, Mohammadreza Mohammadabadi, ... Hojjat Asadollahpour Nanaei in BMC Research Notes
    Article Open access 27 November 2023
  19. Use of Whole Genome Sequencing for Mycobacterium tuberculosis Complex Antimicrobial Susceptibility Testing

    Whole genome sequencing (WGS) is becoming an important diagnostic tool for antimicrobial susceptibility testing of Mycobacterium tuberculosis complex...
    Vanessa Mohr, Lindsay Sonnenkalb, ... Matthias Merker in Antibiotic Resistance Protocols
    Protocol 2024
  20. Mosaic chromosomal alterations in blood across ancestries using whole-genome sequencing

    Megabase-scale mosaic chromosomal alterations (mCAs) in blood are prognostic markers for a host of human diseases. Here, to gain a better...

    Yasminka A. Jakubek, Ying Zhou, ... Paul L. Auer in Nature Genetics
    Article Open access 30 October 2023
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