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  1. Estimating microhaplotype allele frequencies from low-coverage or pooled sequencing data

    Background

    Microhaplotypes have the potential to be more cost-effective than SNPs for applications that require genetic panels of highly variable...

    Thomas A. Delomas, Stuart C. Willis in BMC Bioinformatics
    Article Open access 03 November 2023
  2. Improved computations for relationship inference using low-coverage sequencing data

    Pedigree inference, for example determining whether two persons are second cousins or unrelated, can be done by comparing their genotypes at a...

    Petter Mostad, Andreas Tillmar, Daniel Kling in BMC Bioinformatics
    Article Open access 09 March 2023
  3. Tagging large CNV blocks in wheat boosts digitalization of germplasm resources by ultra-low-coverage sequencing

    Background

    The massive structural variations and frequent introgression highly contribute to the genetic diversity of wheat, while the huge and...

    Jianxia Niu, Wenxi Wang, ... Weilong Guo in Genome Biology
    Article Open access 01 July 2024
  4. Cost-effectively dissecting the genetic architecture of complex wool traits in rabbits by low-coverage sequencing

    Background

    Rabbit wool traits are important in fiber production and for model organism research on hair growth, but their genetic architecture remains...

    Dan Wang, Kerui **e, ... **nzhong Fan in Genetics Selection Evolution
    Article Open access 18 November 2022
  5. Variance of allele balance calculated from low coverage sequencing data infers departure from a diploid state

    Background

    Polyploidy and heterokaryosis are common and consequential genetic phenomena that increase the number of haplotypes in an organism and...

    Kyle Fletcher, Rongkui Han, ... Richard Michelmore in BMC Bioinformatics
    Article Open access 25 April 2022
  6. CNVind: an open source cloud-based pipeline for rare CNVs detection in whole exome sequencing data based on the depth of coverage

    Background

    A typical Copy Number Variations (CNVs) detection process based on the depth of coverage in the Whole Exome Sequencing (WES) data consists...

    Wiktor Kuśmirek, Robert Nowak in BMC Bioinformatics
    Article Open access 05 March 2022
  7. Detecting selection in low-coverage high-throughput sequencing data using principal component analysis

    Background

    Identification of selection signatures between populations is often an important part of a population genetic study. Leveraging...

    Jonas Meisner, Anders Albrechtsen, Kristian Hanghøj in BMC Bioinformatics
    Article Open access 29 September 2021
  8. Optimization of enzymatic fragmentation is crucial to maximize genome coverage: a comparison of library preparation methods for Illumina sequencing

    Background

    Novel commercial kits for whole genome library preparation for next-generation sequencing on Illumina platforms promise shorter workflows,...

    Teodora Ribarska, Pål Marius Bjørnstad, ... Gregor D. Gilfillan in BMC Genomics
    Article Open access 01 February 2022
  9. Next Generation Sequencing in Healthcare

    With the fast development and broad application of next-generation sequencing (NGS) technology, data on genomic sequences is now reaching the aims of...
    Duy Ha Nguyen, Yen Vy Nguyen Thi, Dinh-Toi Chu in Advances in Bioinformatics
    Chapter 2024
  10. Comparison of capture-based mtDNA sequencing performance between MGI and illumina sequencing platforms in various sample types

    Background

    Mitochondrial genome abnormalities can lead to mitochondrial dysfunction, which in turn affects cellular biology and is closely associated...

    Zehui Feng, Fan Peng, ... Xu Guo in BMC Genomics
    Article Open access 08 January 2024
  11. Imputation strategies for genomic prediction using nanopore sequencing

    Background

    Genomic prediction describes the use of SNP genotypes to predict complex traits and has been widely applied in humans and agricultural...

    H. J. Lamb, L. T. Nguyen, ... E. M. Ross in BMC Biology
    Article Open access 08 December 2023
  12. Application of Deep Sequencing in Phage Display

    This chapter describes the workflow to implement deep sequencing into standard phage display experiments on protein libraries. By harvesting the...
    Vincent Van Deuren, Sander Plessers, ... Johan Robben in Bacteriophages
    Protocol 2024
  13. Identification of 45S rDNA in Passiflora using low coverage sequencing: analysis of GC content and chromosomal localization

    Background

    The 45S rDNA is considered the most useful chromosomal marker for cytogenetic analysis of Passiflora . Amplification of 45S rDNA sequence...

    Gonçalo Santos Silva, Margarete Magalhães Souza, Vanessa Carvalho Cayres Pamponét in Molecular Biology Reports
    Article 23 August 2022
  14. TILLING by Sequencing

    The Targeting Induced Local Lesions In Genome (TILLING) is emerging as a preferred technique of reverse genetics. The use of next generation...
    Swapnil B. Kadam, Vitthal T. Barvkar in TILLING and Eco-TILLING for Crop Improvement
    Chapter 2023
  15. Targeted sequencing analysis pipeline for species identification of human pathogenic fungi using long-read nanopore sequencing

    Among molecular-based techniques for fungal identification, Sanger sequencing of the primary universal fungal DNA barcode, the internal transcribed...

    Nattapong Langsiri, Navaporn Worasilchai, ... Ariya Chindamporn in IMA Fungus
    Article Open access 06 September 2023
  16. Double Digest Restriction-Site Associated DNA Sequencing (ddRADseq) Technology

    Double digest restriction-site associated DNA sequencing (ddRADseq) technology combines genome reduced representation by digestion with two...
    Natalia Cristina Aguirre, Carla Valeria Filippi, ... Norma Beatriz Paniego in Plant Genoty**
    Protocol 2023
  17. Genome sequencing-based coverage analyses facilitate high-resolution detection of deletions linked to phenotypes of gamma-irradiated wheat mutants

    Background

    Gamma-irradiated mutants of Triticum aestivum L., hexaploid wheat, provide novel and agriculturally important traits and are used as...

    Shoya Komura, Hironobu **no, ... Fuminori Kobayashi in BMC Genomics
    Article Open access 09 February 2022
  18. Next-generation fungal identification using target enrichment and Nanopore sequencing

    Background

    Rapid and accurate pathogen identification is required for disease management. Compared to sequencing entire genomes, targeted sequencing...

    Pei-Ling Yu, James C. Fulton, ... Jeremy T. Brawner in BMC Genomics
    Article Open access 02 October 2023
  19. Nanopore Sequencing for Mixed Samples

    Long read Nanopore sequencing can be utilised to determine the quality and accuracy of genetically engineered changes in animals, which often produce...
    Angela H. Beckett, Samuel C. Robson in DNA Manipulation and Analysis
    Protocol 2023
  20. A cautionary tale of low-pass sequencing and imputation with respect to haplotype accuracy

    Background

    Low-pass whole-genome sequencing and imputation offer significant cost savings, enabling substantial increases in sample size and...

    David Wragg, Wengang Zhang, ... Dylan N. Clements in Genetics Selection Evolution
    Article Open access 12 January 2024
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