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19,811 Results Found

  • Feature Paper
  • Review
  • Open Access
23 Citations
10,748 Views
16 Pages

The genome sequence of any organism is key to understanding the biology and utility of that organism. Plants have diverse, complex and sometimes very large nuclear genomes, mitochondrial genomes and much smaller and more highly conserved chloroplast...

  • Article
  • Open Access
12 Citations
3,712 Views
13 Pages

Genome Survey Sequencing of Betula platyphylla

  • Sui Wang,
  • Su Chen,
  • Caixia Liu,
  • Yi Liu,
  • Xiyang Zhao,
  • Chuanping Yang and
  • Guan-Zheng Qu

20 September 2019

Research Highlights: A rigorous genome survey helped us to estimate the genomic characteristics, remove the DNA contamination, and determine the sequencing scheme of Betula platyphylla. Background and Objectives: B. platyphylla is a common tree speci...

  • Review
  • Open Access
1 Citations
2,115 Views
18 Pages

Genome-editing technology has advanced significantly since the 2020 Nobel Prize in Chemistry was awarded for the development of clustered regularly interspaced short palindromic repeats (CRISPR) and CRISPR-associated protein 9 (Cas9). While CRISPR&nd...

  • Review
  • Open Access
75 Citations
13,325 Views
14 Pages

Genome Sequencing and Assembly by Long Reads in Plants

  • Changsheng Li,
  • Feng Lin,
  • Dong An,
  • Wenqin Wang and
  • Ruidong Huang

28 December 2017

Plant genomes generated by Sanger and Next Generation Sequencing (NGS) have provided insight into species diversity and evolution. However, Sanger sequencing is limited in its applications due to high cost, labor intensity, and low throughput, while...

  • Review
  • Open Access
24 Citations
15,085 Views
13 Pages

Genome Walking by Next Generation Sequencing Approaches

  • Mariateresa Volpicella,
  • Claudia Leoni,
  • Alessandra Costanza,
  • Immacolata Fanizza,
  • Antonio Placido and
  • Luigi R. Ceci

1 October 2012

Genome Walking (GW) comprises a number of PCR-based methods for the identification of nucleotide sequences flanking known regions. The different methods have been used for several purposes: from de novo sequencing, useful for the identification of un...

  • Article
  • Open Access
5 Citations
5,393 Views
20 Pages

Integrating Optical Genome Mapping and Whole Genome Sequencing in Somatic Structural Variant Detection

  • Laura Budurlean,
  • Diwakar Bastihalli Tukaramrao,
  • Lijun Zhang,
  • Sinisa Dovat and
  • James Broach

9 March 2024

Structural variants drive tumorigenesis by disrupting normal gene function through insertions, inversions, translocations, and copy number changes, including deletions and duplications. Detecting structural variants is crucial for revealing their rol...

  • Article
  • Open Access
9 Citations
2,386 Views
17 Pages

Optimizing the Conditions for Whole-Genome Sequencing of Avian Reoviruses

  • Sonsiray Alvarez Narvaez,
  • Telvin L. Harrell,
  • Olatunde Oluwayinka,
  • Holly S. Sellers,
  • Zubair Khalid,
  • Ruediger Hauck,
  • Erfan U. Chowdhury and
  • Steven J. Conrad

16 September 2023

Whole-genome sequencing (WGS) is becoming an essential tool to characterize the genomes of avian reovirus (ARV), a viral disease of economic significance to poultry producers. The current strategies and procedures used to obtain the complete genome s...

  • Article
  • Open Access
8 Citations
3,913 Views
11 Pages

18 November 2021

Sebastiscus species, marine rockfishes, are of essential economic value. However, the genomic data of this genus is lacking and incomplete. Here, whole genome sequencing of all species of Sebastiscus was conducted to provide fundamental genomic infor...

  • Review
  • Open Access
19 Citations
10,510 Views
18 Pages

Advances in Whole Genome Sequencing: Methods, Tools, and Applications in Population Genomics

  • Ying Lu,
  • Mengfei Li,
  • Zhendong Gao,
  • Hongming Ma,
  • Yuqing Chong,
  • Jieyun Hong,
  • Jiao Wu,
  • Dongwang Wu,
  • Dongmei Xi and
  • Weidong Deng

With the rapid advancement of high-throughput sequencing technologies, whole genome sequencing (WGS) has emerged as a crucial tool for studying genetic variation and population structure. Utilizing population genomics tools to analyze resequencing da...

  • Article
  • Open Access
18 Citations
4,383 Views
11 Pages

An Amplicon-Based Approach for the Whole-Genome Sequencing of Human Metapneumovirus

  • Rachel L. Tulloch,
  • Jen Kok,
  • Ian Carter,
  • Dominic E. Dwyer and
  • John-Sebastian Eden

18 March 2021

Human metapneumovirus (HMPV) is an important cause of upper and lower respiratory tract disease in individuals of all ages. It is estimated that most individuals will be infected by HMPV by the age of five years old. Despite this burden of disease, t...

  • Feature Paper
  • Review
  • Open Access
49 Citations
12,874 Views
16 Pages

Thousands of ostensibly healthy individuals have had their exome or genome sequenced, but a much smaller number of these individuals have received any personal genomic results from that sequencing. We term those projects in which ostensibly healthy p...

  • Review
  • Open Access
21 Citations
5,623 Views
12 Pages

21 March 2022

Identification of genomic variability in population plays an important role in the clinical diagnostics of human genetic diseases. Thanks to rapid technological development in the field of massive parallel sequencing technologies, also known as next-...

  • Review
  • Open Access
27 Citations
12,496 Views
21 Pages

Cancer Genome Sequencing and Its Implications for Personalized Cancer Vaccines

  • Lijin Li,
  • Peter Goedegebuure,
  • Elaine R. Mardis,
  • Matthew J.C. Ellis,
  • Xiuli Zhang,
  • John M. Herndon,
  • Timothy P. Fleming,
  • Beatriz M. Carreno,
  • Ted H. Hansen and
  • William E. Gillanders

25 November 2011

New DNA sequencing platforms have revolutionized human genome sequencing. The dramatic advances in genome sequencing technologies predict that the $1,000 genome will become a reality within the next few years. Applied to cancer, the availability of c...

  • Article
  • Open Access
17 Citations
5,116 Views
12 Pages

Whole Genome Sequencing and Comparative Genome Analysis of the Halotolerant Deep Sea Black Yeast Hortaea werneckii

  • Orazio Romeo,
  • Alessia Marchetta,
  • Domenico Giosa,
  • Letterio Giuffrè,
  • Clara Urzì and
  • Filomena De Leo

2 October 2020

Hortaea werneckii, an extreme halotolerant black yeast in the order of Capnodiales, was recently isolated from different stations and depths in the Mediterranean Sea, where it was shown to be the dominant fungal species. In order to explore the genom...

  • Article
  • Open Access
1 Citations
1,478 Views
19 Pages

Whole Genome Sequencing and Comparative Genomics Analysis of Goat-Derived Klebsiella oxytoca

  • Yu Zhang,
  • Zhenxing Zhang,
  • Ziying Wang,
  • Yimei Chen,
  • Lianjie Liao,
  • Li Du,
  • Hongyan Gao,
  • Qiaoling Chen,
  • Churiga Man and
  • Si Chen
  • + 1 author

26 December 2024

Background: This research aims to enhance the genomic database of Klebsiella oxytoca by identifying virulence genes through the whole genome sequencing and comparative analysis of a goat-derived K. oxytoca (KOHN1) strain, while clarifying the relatio...

  • Review
  • Open Access
71 Citations
24,243 Views
23 Pages

Implementing Whole Genome Sequencing (WGS) in Clinical Practice: Advantages, Challenges, and Future Perspectives

  • Petar Brlek,
  • Luka Bulić,
  • Matea Bračić,
  • Petar Projić,
  • Vedrana Škaro,
  • Nidhi Shah,
  • Parth Shah and
  • Dragan Primorac

13 March 2024

The integration of whole genome sequencing (WGS) into all aspects of modern medicine represents the next step in the evolution of healthcare. Using this technology, scientists and physicians can observe the entire human genome comprehensively, genera...

  • Article
  • Open Access
685 Views
14 Pages

Genome Survey Sequencing of Indigofera pseudotinctoria and Identification of Its SSR Markers

  • Jing Chen,
  • Qifan Ran,
  • Yuandong Xu,
  • Junming Zhao,
  • Xiao Ma,
  • Wei He and
  • Yan Fan

23 August 2025

Background: Indigofera pseudotinctoria, a traditional Chinese forage and medicine widely used in East Asia, holds significant economic and agricultural value. Despite this, genomic information regarding I. pseudotinctoria remains conspicuously lackin...

  • Article
  • Open Access
6 Citations
4,348 Views
9 Pages

Rapid Whole Genome Sequencing in Critically Ill Neonates Enables Precision Medicine Pipeline

  • Makenzie Beaman,
  • Kimberley Fisher,
  • Marie McDonald,
  • Queenie K. G. Tan,
  • David Jackson,
  • Benjamin T. Cocanougher,
  • Andrew P. Landstrom,
  • Charlotte A. Hobbs,
  • Michael Cotten and
  • Jennifer L. Cohen

18 November 2022

Rapid genome sequencing in critically ill infants is increasingly identified as a crucial test for providing targeted and informed patient care. We report the outcomes of a pilot study wherein eight critically ill neonates received rapid whole genome...

  • Article
  • Open Access
2 Citations
1,952 Views
17 Pages

Genome Sequencing and Metabolic Potential Analysis of Irpex lacteus

  • Yue Wang,
  • Yingce Duan,
  • Menghan Zhang,
  • Chaoqin Liang,
  • Wenli Li,
  • Chengwei Liu and
  • Ying Ye

7 December 2024

Irpex lacteus is an edible and medicinal macrofungus with significant biological activity and broad pharmaceutical prospects that has received increasing attention in recent years. Although it is an important resource for macrofungi, knowledge of it...

  • Article
  • Open Access
17 Citations
7,240 Views
14 Pages

Quantifying Next Generation Sequencing Sample Pre-Processing Bias in HIV-1 Complete Genome Sequencing

  • Bram Vrancken,
  • Nídia Sequeira Trovão,
  • Guy Baele,
  • Eric Van Wijngaerden,
  • Anne-Mieke Vandamme,
  • Kristel Van Laethem and
  • Philippe Lemey

7 January 2016

Genetic analyses play a central role in infectious disease research. Massively parallelized “mechanical cloning” and sequencing technologies were quickly adopted by HIV researchers in order to broaden the understanding of the clinical importance of m...

  • Communication
  • Open Access
22 Citations
3,031 Views
8 Pages

A First Insight into a Draft Genome of Silver Sillago (Sillago sihama) via Genome Survey Sequencing

  • Zhiyuan Li,
  • Changxu Tian,
  • Yang Huang,
  • Xinghua Lin,
  • Yaorong Wang,
  • Dongneng Jiang,
  • Chunhua Zhu,
  • Huapu Chen and
  • Guangli Li

1 October 2019

Sillago sihama has high economic value and is one of the most attractive aquaculture species in China. Despite its economic importance, studies of its genome have barely been performed. In this study, we conducted a first genomic survey of S. sihama...

  • Perspective
  • Open Access
4 Citations
3,800 Views
6 Pages

Hypoplastic left heart syndrome (HLHS) is a genetically complex disorder. Whole genome sequencing enables comprehensive scrutiny of single nucleotide variants and small insertions/deletions, within both coding and regulatory regions of the genome, re...

  • Article
  • Open Access
5 Citations
2,594 Views
12 Pages

1 December 2022

Ilex chinensis Sims. is an evergreen arbor species with high ornamental and medicinal value that is widely distributed in China. However, there is a lack of molecular and genomic data for this plant, which severely restricts the development of its re...

  • Article
  • Open Access
3 Citations
1,705 Views
15 Pages

Short-Read and Long-Read Whole Genome Sequencing for SARS-CoV-2 Variants Identification

  • Mengfei Peng,
  • Morgan L. Davis,
  • Meghan L. Bentz,
  • Alex Burgin,
  • Mark Burroughs,
  • Jasmine Padilla,
  • Sarah Nobles,
  • Yvette Unoarumhi and
  • Kevin Tang

18 April 2025

Genomic surveillance of SARS-CoV-2 is crucial for detecting emerging variants and informing public health responses. Various sequencing technologies are used for whole genome sequencing of SARS-CoV-2. This cross-platform benchmark study applied estab...

  • Article
  • Open Access
21 Citations
5,801 Views
21 Pages

Comparative Analysis of Genotyping by Sequencing and Whole-Genome Sequencing Methods in Diversity Studies of Olea europaea L.

  • James Friel,
  • Aureliano Bombarely,
  • Carmen Dorca Fornell,
  • Francisco Luque and
  • Ana Maria Fernández-Ocaña

19 November 2021

Olive, Olea europaea L., is a tree of great economic and cultural importance in the Mediterranean basin. Thousands of cultivars have been described, of which around 1200 are conserved in the different olive germplasm banks. The genetic characterisati...

  • Article
  • Open Access
2,172 Views
14 Pages

Sequencing and Phylogenetic Analysis of the Chloroplast Genome of Three Apricot Species

  • Ru Yi,
  • Wenquan Bao,
  • Dun Ao,
  • Yu-e Bai,
  • Lin Wang and
  • Ta-na Wuyun

18 October 2023

The production and quality of apricots in China is currently limited by the availability of germplasm resource characterizations, including identification at the species and cultivar level. To help address this issue, the complete chloroplast genomes...

  • Review
  • Open Access
70 Citations
11,815 Views
17 Pages

30 August 2022

Whole genome sequencing (WGS) provides the highest resolution for genome-based species identification and can provide insight into the antimicrobial resistance and virulence potential of a single microbiological isolate during the diagnostic process....

  • Article
  • Open Access
7 Citations
3,585 Views
15 Pages

The Development of an Infrastructure to Facilitate the Use of Whole Genome Sequencing for Population Health

  • Nephi A. Walton,
  • Brent Hafen,
  • Sara Graceffo,
  • Nykole Sutherland,
  • Melanie Emmerson,
  • Rachel Palmquist,
  • Christine M. Formea,
  • Maricel Purcell,
  • Bret Heale and
  • Matthew A. Brown
  • + 33 authors

8 November 2022

The clinical use of genomic analysis has expanded rapidly resulting in an increased availability and utility of genomic information in clinical care. We have developed an infrastructure utilizing informatics tools and clinical processes to facilitate...

  • Article
  • Open Access
80 Citations
13,390 Views
13 Pages

A Comparison of Whole Genome Sequencing of SARS-CoV-2 Using Amplicon-Based Sequencing, Random Hexamers, and Bait Capture

  • Jalees A. Nasir,
  • Robert A. Kozak,
  • Patryk Aftanas,
  • Amogelang R. Raphenya,
  • Kendrick M. Smith,
  • Finlay Maguire,
  • Hassaan Maan,
  • Muhannad Alruwaili,
  • Arinjay Banerjee and
  • Hamza Mbareche
  • + 7 authors

15 August 2020

Genome sequencing of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is increasingly important to monitor the transmission and adaptive evolution of the virus. The accessibility of high-throughput methods and polymerase chain reaction (P...

  • Article
  • Open Access
50 Citations
9,306 Views
18 Pages

A Deep-Sequencing Workflow for the Fast and Efficient Generation of High-Quality African Swine Fever Virus Whole-Genome Sequences

  • Jan H. Forth,
  • Leonie F. Forth,
  • Jacqueline King,
  • Oxana Groza,
  • Alexandra Hübner,
  • Ann Sofie Olesen,
  • Dirk Höper,
  • Linda K. Dixon,
  • Christopher L. Netherton and
  • Thomas Bruun Rasmussen
  • + 3 authors

11 September 2019

African swine fever (ASF) is a severe disease of suids caused by African swine fever virus (ASFV). Its dsDNA genome (170–194 kbp) is scattered with homopolymers and repeats as well as inverted-terminal-repeats (ITR), which hamper whole-genome sequenc...

  • Article
  • Open Access
1,203 Views
19 Pages

Genome Sequencing and Comparative Genomics of the Hyper-Cellulolytic Fungus Talaromyces pinophilus Y117

  • Ya Li,
  • Siyuan Yue,
  • Peng Li,
  • Jing Zeng,
  • Jianjun Guo,
  • Dawei Xiong,
  • Shuaiwen Zhang,
  • Tao Deng and
  • Lin Yuan

22 August 2025

Talaromyces pinophilus is a filamentous fungus with notable lignocellulose-degrading capacity based on enzyme activities and protein secretion potential, making it a compelling candidate for industrial biotechnology applications. In this study, we pr...

  • Review
  • Open Access
8 Citations
8,577 Views
26 Pages

28 November 2023

Genome sequencing is widely recognized as a fundamental pillar in genetic research and legal studies of biological phenomena, providing essential insights for genetic investigations and legal analyses of biological events. The field of genome sequenc...

  • Article
  • Open Access
29 Citations
8,021 Views
9 Pages

Genome Sequencing of West Nile Virus from Human Cases in Greece, 2012

  • Luisa Barzon,
  • Anna Papa,
  • Monia Pacenti,
  • Elisa Franchin,
  • Enrico Lavezzo,
  • Laura Squarzon,
  • Giulia Masi,
  • Thomas Martello,
  • Theodolinta Testa and
  • Riccardo Cusinato
  • + 1 author

24 September 2013

A West Nile Virus (WNV) lineage 2 strain, named Nea Santa-Greece-2010, has been demonstrated to be responsible for the large outbreaks of neuroinvasive disease (WNND) that have been occurring in Greece since 2010, based on sequence similarities of vi...

  • Article
  • Open Access
16 Citations
3,741 Views
16 Pages

Complete Genome Sequencing of Tick-Borne Encephalitis Virus Directly from Clinical Samples: Comparison of Shotgun Metagenomic and Targeted Amplicon-Based Sequencing

  • Samo Zakotnik,
  • Nataša Knap,
  • Petra Bogovič,
  • Tomaž Mark Zorec,
  • Mario Poljak,
  • Franc Strle,
  • Tatjana Avšič-Županc and
  • Miša Korva

10 June 2022

The clinical presentation of tick-borne encephalitis virus (TBEV) infection varies from asymptomatic to severe meningoencephalitis or meningoencephalomyelitis. The TBEV subtype has been suggested as one of the most important risk factors for disease...

  • Article
  • Open Access
5 Citations
2,429 Views
11 Pages

Molecular Characterisation of M. kansasii Isolates by Whole-Genome Sequencing

  • Priya Rajendran,
  • Chandrasekaran Padmapriyadarsini,
  • Naveenkumar Nagarajan,
  • Roja Samyuktha,
  • Vadivu Govindaraju,
  • Radhika Golla,
  • Shanmugavel Ashokkumar and
  • Sivakumar Shanmugam

17 October 2023

M. kansasii is the most common non-tuberculous mycobacteria, known to be causing pulmonary and extrapulmonary diseases in humans. Based on molecular methods, M. kansasii has been previously classified into seven different subtypes. Now, based on whol...

  • Article
  • Open Access
1 Citations
1,924 Views
12 Pages

Organizational Aspects of the Implementation and Use of Whole Genome Sequencing and Whole Exome Sequencing in the Pediatric Population in Italy: Results of a Survey

  • Mario Cesare Nurchis,
  • Gian Marco Raspolini,
  • Aurora Heidar Alizadeh,
  • Gerardo Altamura,
  • Francesca Clementina Radio,
  • Marco Tartaglia,
  • Bruno Dallapiccola and
  • Gianfranco Damiani

This study explores the organizational aspects of whole genome sequencing (WGS) implementation for pediatric patients with suspected genetic disorders in Italy, comparing it with whole exome sequencing (WES). Health professionals’ opinions were...

  • Perspective
  • Open Access
19 Citations
4,888 Views
10 Pages

Whole Genome Sequencing for Studying Helicobacter pylori Antimicrobial Resistance

  • Belén Fernández-Caso,
  • Ana Miqueleiz and
  • Teresa Alarcón

Antibiotic resistance (AMR) is an alarming concern worldwide and Helicobacter pylori, one of the most prevalent bacteria, is not an exception. With antibiotics being its primary therapy, increasing resistance leads to a higher rate of treatment failu...

  • Review
  • Open Access
14 Citations
8,409 Views
15 Pages

Whole Genome Sequencing Analysis of Salmonella enterica Serovar Typhi: History and Current Approaches

  • Wan Ratmaazila Wan Wan Makhtar,
  • Izwan Bharudin,
  • Nurul Hidayah Samsulrizal and
  • Nik Yusnoraini Yusof

In recent years, the advance in whole-genome sequencing technology has changed the study of infectious diseases. The emergence of genome sequencing has improved the understanding of infectious diseases, which has revamped many fields, such as molecul...

  • Review
  • Open Access
32 Citations
10,343 Views
28 Pages

Genomics of Endometriosis: From Genome Wide Association Studies to Exome Sequencing

  • Imane Lalami,
  • Carole Abo,
  • Bruno Borghese,
  • Charles Chapron and
  • Daniel Vaiman

This review aims at better understanding the genetics of endometriosis. Endometriosis is a frequent feminine disease, affecting up to 10% of women, and characterized by pain and infertility. In the most accepted hypothesis, endometriosis is caused by...

  • Technical Note
  • Open Access
1 Citations
485 Views
14 Pages

A Strategy for Single-Run Sequencing of the Water Buffalo Genome: (II) Fast One-Step Assembly of Highly Continuous Chromosome Sequences

  • Elvira Toscano,
  • Leandra Sepe,
  • Federica Di Maggio,
  • Marcella Nunziato,
  • Angelo Boccia,
  • Elena Cimmino,
  • Arcangelo Scialla,
  • Francesco Salvatore and
  • Giovanni Paolella

17 October 2025

Genome sequencing has possibly been the greatest step in the development of advanced tools for animal genetic improvement: knowledge of gene sequences and use of haplotype markers for productivity traits can provide important improvements in yield pr...

  • Article
  • Open Access
17 Citations
4,172 Views
12 Pages

Genome-Wide Assessment of Runs of Homozygosity by Whole-Genome Sequencing in Diverse Horse Breeds Worldwide

  • Chujie Chen,
  • Bo Zhu,
  • Xiangwei Tang,
  • Bin Chen,
  • Mei Liu,
  • Ning Gao,
  • Sheng Li and
  • Jingjing Gu

1 June 2023

In the genomes of diploid organisms, runs of homozygosity (ROH), consecutive segments of homozygosity, are extended. ROH can be applied to evaluate the inbreeding situation of individuals without pedigree data and to detect selective signatures via R...

  • Article
  • Open Access
2 Citations
4,036 Views
17 Pages

Genome Survey Sequencing of In Vivo Mother Plant and In Vitro Plantlets of Mikania cordata

  • Yongfeng Hong,
  • Xia Huang,
  • Chunmei Li,
  • Xiaoxian Ruan,
  • Zhen Wang,
  • Yingjuan Su and
  • Ting Wang

27 November 2020

Mikania cordata, the only native congener of the invasive weed Mikania micrantha in China, is an ideal species for comparative study to reveal the invasion mechanism. However, its genome resources are lagging far behind its congener, which limits the...

  • Article
  • Open Access
9 Citations
3,587 Views
26 Pages

Implementation of Public Funded Genome Sequencing in Evaluation of Fetal Structural Anomalies

  • Po Lam So,
  • Annie Shuk Yi Hui,
  • Teresa Wei Ling Ma,
  • Wendy Shu,
  • Amelia Pui Wah Hui,
  • Choi Wah Kong,
  • Tsz Kin Lo,
  • Amanda Nim Chi Kan,
  • Elaine Yee Ling Kan and
  • Shuk Ching Chong
  • + 5 authors

10 November 2022

With the advancements in prenatal diagnostics, genome sequencing is now incorporated into clinical use to maximize the diagnostic yield following uninformative conventional tests (karyotype and chromosomal microarray analysis). Hong Kong started publ...

  • Review
  • Open Access
20 Citations
9,179 Views
28 Pages

Whole Genome Sequencing Contributions and Challenges in Disease Reduction Focused on Malaria

  • Olusegun Philip Akoniyon,
  • Taiye Samson Adewumi,
  • Leah Maharaj,
  • Olukunle Olugbenle Oyegoke,
  • Alexandra Roux,
  • Matthew A. Adeleke,
  • Rajendra Maharaj and
  • Moses Okpeku

13 April 2022

Malaria elimination remains an important goal that requires the adoption of sophisticated science and management strategies in the era of the COVID-19 pandemic. The advent of next generation sequencing (NGS) is making whole genome sequencing (WGS) a...

  • Article
  • Open Access
746 Views
11 Pages

A Method for Calculating Whole-Genome Sequencing Outcomes from Trio Data

  • Nikita Koltunov,
  • Egor Guguchkin,
  • Oleg Samovarov,
  • Liudmila Mikhailova and
  • Evgeny Karpulevich

29 September 2025

Background. Whole-genome sequencing (WGS) enables comprehensive detection of genetic variants but faces limitations in benchmarking due to incomplete reference datasets. Trio-based analysis, leveraging Mendelian inheritance, provides an alternative s...

  • Review
  • Open Access
1,571 Views
16 Pages

Applications of Genome Sequencing in Infectious Diseases: From Pathogen Identification to Precision Medicine

  • Gulam Mustafa Hasan,
  • Taj Mohammad,
  • Anas Shamsi,
  • Sukhwinder Singh Sohal and
  • Md. Imtaiyaz Hassan

7 November 2025

Background: Genome sequencing is transforming infectious-disease diagnostics, surveillance, and precision therapy by enabling rapid, high-resolution pathogen identification, transmission tracking, and genomic-informed antimicrobial stewardship. Metho...

  • Article
  • Open Access
22 Citations
4,374 Views
11 Pages

Genome-Wide Association Study of Body Conformation Traits by Whole Genome Sequencing in Dazu Black Goats

  • Bowen Gu,
  • Ruifan Sun,
  • Xingqiang Fang,
  • Jipan Zhang,
  • Zhongquan Zhao,
  • Deli Huang,
  • Yuanping Zhao and
  • Yongju Zhao

23 February 2022

Identifying associations between genetic markers and economic traits has practical benefits for the meat goat industry. To better understand the genomic regions and biological pathways contributing to body conformation traits of meat goats, a genome-...

  • Article
  • Open Access
1,115 Views
15 Pages

Whole-Genome Sequencing of a Potentially Novel Aeromonas Species Isolated from Diseased Siberian Sturgeon (Acipenser baerii) Using Oxford Nanopore Sequencing

  • Akzhigit Mashzhan,
  • Izat Smekenov,
  • Serik Bakiyev,
  • Kalamkas Utegenova,
  • Diana Samatkyzy,
  • Asset Daniyarov,
  • Ulykbek Kairov,
  • Dos Sarbassov and
  • Amangeldy Bissenbaev

Aeromonas spp. are opportunistic pathogens that are widely distributed in water sources, with several species being associated with fish and human diseases. We have previously identified an Aeromonas AB005 isolate from diseased Acipencer baerii. This...

  • Article
  • Open Access
500 Views
17 Pages

A Deep Autoencoder Compression-Based Genomic Prediction Method for Whole-Genome Sequencing Data

  • Hailiang Song,
  • Tian Dong,
  • Wei Wang,
  • Xiaoyu Yan,
  • Chenfan Geng,
  • Song Bai and
  • Hongxia Hu

19 November 2025

Genomic prediction using whole-genome sequencing (WGS) data is challenged by the imbalance between a limited sample size (n) and an extensive number of single-nucleotide polymorphisms (SNPs) (p), where n ≪p. The high dimensionality of WGS...

  • Article
  • Open Access
3 Citations
2,785 Views
11 Pages

Low-Pass Genome Sequencing-Based Detection of Paternity: Validation in Clinical Cytogenetics

  • Keying Li,
  • Yilin Zhao,
  • Matthew Hoi Kin Chau,
  • Ye Cao,
  • Tak Yeung Leung,
  • Yvonne K. Kwok,
  • Kwong Wai Choy and
  • Zirui Dong

27 June 2023

Submission of a non-biological parent together with a proband for genetic diagnosis would cause a misattributed parentage (MP), possibly leading to misinterpretation of the pathogenicity of genomic variants. Therefore, a rapid and cost-effective pate...

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