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73 Results Found

  • Article
  • Open Access
42 Citations
8,260 Views
13 Pages

6 March 2012

Megalobrama pellegrini is an endemic fish species found in the upper Yangtze River basin in China. This species has become endangered due to the construction of the Three Gorges Dam and overfishing. However, the available genetic data for this specie...

  • Article
  • Open Access
31 Citations
9,010 Views
21 Pages

De Novo Sequencing and Analysis of the Safflower Transcriptome to Discover Putative Genes Associated with Safflor Yellow in Carthamus tinctorius L.

  • Xiuming Liu,
  • Yuanyuan Dong,
  • Na Yao,
  • Yu Zhang,
  • Nan Wang,
  • Xiyan Cui,
  • Xiaowei Li,
  • Yanfang Wang,
  • Fawei Wang and
  • Xiaokun Li
  • + 4 authors

26 October 2015

Safflower (Carthamus tinctorius L.), an important traditional Chinese medicine, is cultured widely for its pharmacological effects, but little is known regarding the genes related to the metabolic regulation of the safflower’s yellow pigment. To inve...

  • Article
  • Open Access
10 Citations
6,830 Views
7 Pages

24 March 2014

Cotinus coggygria Scop. (Anacardiaceae) is a deciduous shrub or small tree that is native to a large area covering from southern Europe, east across central Asia, and the Himalayas in northern China. Shotgun 454 pyrosequencing was used to develop mic...

  • Article
  • Open Access
14 Citations
8,541 Views
12 Pages

28 February 2013

Invasive species represent an increasing threat to native ecosystems, harming indigenous taxa through predation, habitat modification, cross-species hybridization and alteration of ecosystem processes. Additionally, high economic costs are associated...

  • Communication
  • Open Access
90 Citations
9,236 Views
10 Pages

Comparison of Rumen and Manure Microbiomes and Implications for the Inoculation of Anaerobic Digesters

  • Emine Gozde Ozbayram,
  • Orhan Ince,
  • Bahar Ince,
  • Hauke Harms and
  • Sabine Kleinsteuber

Cattle manure is frequently used as an inoculum for the start-up of agricultural biogas plants or as a co-substrate in the anaerobic digestion of lignocellulosic feedstock. Ruminal microbiota are considered to be effective plant fiber degraders, but...

  • Feature Paper
  • Article
  • Open Access
27 Citations
4,810 Views
16 Pages

Transcriptomic-Proteomic Correlation in the Predation-Evoked Venom of the Cone Snail, Conus imperialis

  • Ai-Hua Jin,
  • Sébastien Dutertre,
  • Mriga Dutt,
  • Vincent Lavergne,
  • Alun Jones,
  • Richard J. Lewis and
  • Paul F. Alewood

19 March 2019

Individual variation in animal venom has been linked to geographical location, feeding habit, season, size, and gender. Uniquely, cone snails possess the remarkable ability to change venom composition in response to predatory or defensive stimuli. To...

  • Article
  • Open Access
72 Citations
15,176 Views
14 Pages

Identification of Carbohydrate Metabolism Genes in the Metagenome of a Marine Biofilm Community Shown to Be Dominated by Gammaproteobacteria and Bacteroidetes

  • Jennifer L. Edwards,
  • Darren L. Smith,
  • John Connolly,
  • James E. McDonald,
  • Michael J. Cox,
  • Ian Joint,
  • Clive Edwards and
  • Alan J. McCarthy

26 October 2010

Polysaccharides are an important source of organic carbon in the marine environment and degradation of the insoluble and globally abundant cellulose is a major component of the marine carbon cycle. Although a number of species of cultured bacteria ar...

  • Article
  • Open Access
15 Citations
3,942 Views
19 Pages

Phthalate acid esters (PAEs) are the most frequently utilized synthetic chemical compounds worldwide. They are typical emergent contaminants and are currently attracting considerable concern due to their risks to plants, animals, and public health. D...

  • Article
  • Open Access
16 Citations
8,076 Views
21 Pages

29 August 2012

Siamese mud carp (Henichorynchus siamensis) is a freshwater teleost of high economic importance in the Mekong River Basin. However, genetic data relevant for delineating wild stocks for management purposes currently are limited for this species. Here...

  • Article
  • Open Access
13 Citations
5,080 Views
12 Pages

High-Throughput Identification of Adapters in Single-Read Sequencing Data

  • Asan M.S.H. Mohideen,
  • Steinar D. Johansen and
  • Igor Babiak

Sequencing datasets available in public repositories are already high in number, and their growth is exponential. Raw sequencing data files constitute a substantial portion of these data, and they need to be pre-processed for any downstream analyses....

  • Article
  • Open Access
4 Citations
5,986 Views
7 Pages

21 November 2013

We developed tetranucleotide-repeat microsatellite markers for the masu salmon (Oncorhynchus masou) complex. 454 pyrosequencing was used to discover repeat motifs, and seven polymorphic microsatellite-primer sets were identified. The number of allele...

  • Article
  • Open Access
21 Citations
4,610 Views
19 Pages

Chronic acid deposition affects many temperate hardwood forests of the northeastern United States, reduces soil pH and phosphorus (P) availability, and can alter the structure and function of soil microbial communities. The strategies that microorgan...

  • Article
  • Open Access
38 Citations
5,954 Views
13 Pages

Development and Molecular Characterization of 55 Novel Polymorphic cDNA-SSR Markers in Faba Bean (Vicia faba L.) Using 454 Pyrosequencing

  • Sundan Suresh,
  • Jong-Hyun Park,
  • Gyu-Taek Cho,
  • Ho-Sun Lee,
  • Hyung-Jin Baek,
  • Sok-Young Lee and
  • Jong-Wook Chung

31 January 2013

Faba bean (Vicia faba L.) is a major food source and fodder legume, popularly known for its high content of seed-protein. Its role is critical in crop rotation, and for fixing nitrogen effectively. Polymorphic simple sequence repeat markers from tran...

  • Article
  • Open Access
45 Citations
7,230 Views
17 Pages

16 July 2013

Vetch (Vicia sativa L.) is one of the most important annual forage legumes in the World due to its multiple uses (i.e., hay, grain, silage and green manure) and high nutritional value. However, detrimental cyanoalanine toxins in its plant parts inclu...

  • Article
  • Open Access
44 Citations
9,422 Views
16 Pages

Transcriptome Analysis Reveals Putative Genes Involved in Iridoid Biosynthesis in Rehmannia glutinosa

  • Peng Sun,
  • Shuhui Song,
  • Lili Zhou,
  • Bing Zhang,
  • Jianjun Qi and
  • Xianen Li

23 October 2012

Rehmannia glutinosa, one of the most widely used herbal medicines in the Orient, is rich in biologically active iridoids. Despite their medicinal importance, no molecular information about the iridoid biosynthesis in this plant is presently available...

  • Article
  • Open Access
25 Citations
6,842 Views
11 Pages

22 August 2012

Mytilus coruscus (family Mytilidae) is one of the most important marine shellfish species in Korea. During the past few decades, this species has become endangered due to the loss of habitats and overfishing. Despite this species’ importance, informa...

  • Review
  • Open Access
166 Citations
17,308 Views
20 Pages

Mining and Development of Novel SSR Markers Using Next Generation Sequencing (NGS) Data in Plants

  • Sima Taheri,
  • Thohirah Lee Abdullah,
  • Mohd Rafii Yusop,
  • Mohamed Musa Hanafi,
  • Mahbod Sahebi,
  • Parisa Azizi and
  • Redmond Ramin Shamshiri

13 February 2018

Microsatellites, or simple sequence repeats (SSRs), are one of the most informative and multi-purpose genetic markers exploited in plant functional genomics. However, the discovery of SSRs and development using traditional methods are laborious, time...

  • Article
  • Open Access
73 Citations
11,917 Views
18 Pages

5 June 2014

In order to comprehensively investigate tetracycline resistance in activated sludge of sewage treatment plants, 454 pyrosequencing and Illumina high-throughput sequencing were used to detect potential tetracycline resistant bacteria (TRB) and antibi...

  • Short Note
  • Open Access
9 Citations
4,984 Views
6 Pages

Head Kidney Transcriptome Analysis and Characterization for the Sub-Antarctic Notothenioid Fish Eleginops maclovinus

  • Danixa Martínez,
  • Juan Pablo Pontigo,
  • Francisco J. Morera,
  • Alejandro. Yañéz and
  • Luis Vargas-Chacoff

25 January 2018

This study describes de novo transcriptome sequencing and annotation analyses for the head kidney of the sub-Antarctic notothenioid fish Eleginops maclovinus, a sister group of the Antarctic notothenioid fish clade. Moreover, E. maclovinus is one of...

  • Article
  • Open Access
13 Citations
5,726 Views
30 Pages

Evidence of Immune Modulators in the Secretome of the Equine Tapeworm Anoplocephala perfoliata

  • Boontarikaan Wititkornkul,
  • Benjamin J. Hulme,
  • John J. Tomes,
  • Nathan R. Allen,
  • Chelsea N. Davis,
  • Sarah D. Davey,
  • Alan R. Cookson,
  • Helen C. Phillips,
  • Matthew J. Hegarty and
  • Russell M. Morphew
  • + 3 authors

Anoplocephala perfoliata is a neglected gastro-intestinal tapeworm, commonly infecting horses worldwide. Molecular investigation of A. perfoliata is hampered by a lack of tools to better understand the host–parasite interface. This interface is likel...

  • Article
  • Open Access
24 Citations
9,558 Views
15 Pages

Digital Marine Bioprospecting: Mining New Neurotoxin Drug Candidates from the Transcriptomes of Cold-Water Sea Anemones

  • Ilona Urbarova,
  • Bård Ove Karlsen,
  • Siri Okkenhaug,
  • Ole Morten Seternes,
  • Steinar D. Johansen and
  • Åse Emblem

18 October 2012

Marine bioprospecting is the search for new marine bioactive compounds and large-scale screening in extracts represents the traditional approach. Here, we report an alternative complementary protocol, called digital marine bioprospecting, based on de...

  • Article
  • Open Access
3 Citations
8,091 Views
13 Pages

Identification of a Novel Human Rhinovirus C Type by Antibody Capture VIDISCA-454

  • Seyed Mohammad Jazaeri Farsani,
  • Bas B. Oude Munnink,
  • Marta Canuti,
  • Martin Deijs,
  • Matthew Cotten,
  • Maarten F. Jebbink,
  • Joost Verhoeven,
  • Paul Kellam,
  • Katherine Loens and
  • Lia Van der Hoek
  • + 2 authors

19 January 2015

Causative agents for more than 30 percent of respiratory infections remain unidentified, suggesting that unknown respiratory pathogens might be involved. In this study, antibody capture VIDISCA-454 (virus discovery cDNA-AFLP combined with Roche 454 h...

  • Article
  • Open Access
8 Citations
7,096 Views
8 Pages

Isolation and Characterization of Simple Sequence Repeats (SSR) Markers from the Moss Genus Orthotrichum Using a Small Throughput Pyrosequencing Machine

  • Jakub Sawicki,
  • Mirosław Kwaśniewski,
  • Monika Szczecińska,
  • Karolina Chwiałkowska,
  • Monika Milewicz and
  • Vítězslav Plášek

19 June 2012

Here, we report the results of next-generation sequencing on the GS Junior system to identify a large number of microsatellites from the epiphytic moss Orthotrichum speciosum. Using a combination of a total (non-enrichment) genomic library and small-...

  • Article
  • Open Access
1,347 Views
11 Pages

Peculiarities of Diagnostic Reliability—Nested PCR Versus SAT in the Identification of Helicobacter pylori

  • Barbora Šipková,
  • Michaela Abrahamovská,
  • Janka Klingová,
  • Bianka Prokopová,
  • Jana Krčmáriková,
  • Iveta Cihová and
  • Pavol Sulo

H. pylori detection via the stool antigen test (SAT) requires 100 times more cells than nested PCR (NPCR) for a 454 bp amplicon, but is significantly more sensitive in identifying positive stool samples. To understand this contradiction, we developed...

  • Article
  • Open Access
17 Citations
4,127 Views
22 Pages

Identification and Functional Analysis of Long Non-Coding RNA (lncRNA) in Response to Seed Aging in Rice

  • Yixin Zhang,
  • Fan Fan,
  • Qunjie Zhang,
  • Yongjian Luo,
  • Qinjian Liu,
  • Jiadong Gao,
  • Jun Liu,
  • Guanghui Chen and
  • Haiqing Zhang

24 November 2022

Many lncRNAs have been shown to play a vital role in aging processes. However, how lncRNAs regulate seed aging remains unknown. In this study, we performed whole transcriptome strand-specific RNA sequencing of samples from rice embryos, analyzed the...

  • Article
  • Open Access
2,515 Views
8 Pages

Reference Mapping Considering Swaps of Adjacent Bases

  • Youngho Kim,
  • Munseong Kang,
  • Ju-Hui Jeong,
  • Dae Woong Kang,
  • Soo Jun Park and
  • Jeong Seop Sim

29 May 2021

Since the time of the HGP, research into next-generation sequencing, which can reduce the cost and time of sequence analysis using computer algorithms, has been actively conducted. Mapping is a next-generation sequencing method that identifies sequen...

  • Article
  • Open Access
18 Citations
8,424 Views
33 Pages

DNA Barcoding of Fresh and Historical Collections of Lichen-Forming Basidiomycetes in the Genera Cora and Corella (Agaricales: Hygrophoraceae): A Success Story?

  • Manuela Dal Forno,
  • James D. Lawrey,
  • Bibiana Moncada,
  • Frank Bungartz,
  • Martin Grube,
  • Eric Schuettpelz and
  • Robert Lücking

10 April 2022

Lichens collected worldwide for centuries have resulted in millions of specimens deposited in herbaria that offer the potential to assess species boundaries, phenotypic diversification, ecology, and distribution. The application of molecular approach...

  • Article
  • Open Access
22 Citations
6,396 Views
19 Pages

Transcriptome Analysis of Two Vicia sativa Subspecies: Mining Molecular Markers to Enhance Genomic Resources for Vetch Improvement

  • Tae-Sung Kim,
  • Sebastin Raveendar,
  • Sundan Suresh,
  • Gi-An Lee,
  • Jung-Ro Lee,
  • Joon-Hyeong Cho,
  • Sok-Young Lee,
  • Kyung-Ho Ma,
  • Gyu-Taek Cho and
  • Jong-Wook Chung

2 November 2015

The vetch (Vicia sativa) is one of the most important annual forage legumes globally due to its multiple uses and high nutritional content. Despite these agronomical benefits, many drawbacks, including cyano-alanine toxin, has reduced the agronomic v...

  • Review
  • Open Access
99 Citations
12,611 Views
11 Pages

Tumor heterogeneity has been compared with Darwinian evolution and survival of the fittest. The evolutionary ecosystem of tumors consisting of heterogeneous tumor cell populations represents a considerable challenge to tumor therapy, since all geneti...

  • Article
  • Open Access
19 Citations
6,382 Views
8 Pages

Nuclear Microsatellite Primers for the Endangered Relict Fir, Abies pinsapo (Pinaceae) and Cross-Amplification in Related Mediterranean Species

  • Jose M. Sánchez-Robles,
  • Francisco Balao,
  • Juan L. García-Castaño,
  • Anass Terrab,
  • Laura Navarro-Sampedro and
  • Salvador Talavera

5 November 2012

Twelve nuclear microsatellite primers (nSSR) were developed for the endangered species Abies pinsapo Boiss. to enable the study of gene flow and genetic structure in the remaining distribution areas. Microsatellite primers were developed using next-g...

  • Article
  • Open Access
17 Citations
11,360 Views
16 Pages

Assessing the Accuracy of Quantitative Molecular Microbial Profiling

  • Denise M. O'Sullivan,
  • Thomas Laver,
  • Sasithon Temisak,
  • Nicholas Redshaw,
  • Kathryn A. Harris,
  • Carole A. Foy,
  • David J. Studholme and
  • Jim F. Huggett

21 November 2014

The application of high-throughput sequencing in profiling microbial communities is providing an unprecedented ability to investigate microbiomes. Such studies typically apply one of two methods: amplicon sequencing using PCR to target a conserved or...

  • Article
  • Open Access
17 Citations
7,295 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...

  • Article
  • Open Access
67 Citations
15,196 Views
26 Pages

454 Pyrosequencing Analysis of Fungal Assemblages from Geographically Distant, Disparate Soils Reveals Spatial Patterning and a Core Mycobiome

  • Alberto Orgiazzi,
  • Valeria Bianciotto,
  • Paola Bonfante,
  • Stefania Daghino,
  • Stefano Ghignone,
  • Alexandra Lazzari,
  • Erica Lumini,
  • Antonietta Mello,
  • Chiara Napoli and
  • Mariangela Girlanda
  • + 4 authors

21 February 2013

Identifying a soil core microbiome is crucial to appreciate the established microbial consortium, which is not usually subjected to change and, hence, possibly resistant/resilient to disturbances and a varying soil context. Fungi are a major part of...

  • Article
  • Open Access
6 Citations
7,095 Views
13 Pages

The Sequence of Two Bacteriophages with Hypermodified Bases Reveals Novel Phage-Host Interactions

  • Andrew M. Kropinski,
  • Dann Turner,
  • John H. E. Nash,
  • Hans-Wolfgang Ackermann,
  • Erika J. Lingohr,
  • Richard A. Warren,
  • Kenneth C. Ehrlich and
  • Melanie Ehrlich

24 April 2018

Bacteriophages SP-15 and ΦW-14 are members of the Myoviridae infecting Bacillus subtilis and Delftia (formerly Pseudomonas) acidovorans, respectively. What links them is that in both cases, approximately 50% of the thymine residues are replaced b...

  • Article
  • Open Access
1 Citations
2,044 Views
11 Pages

NFκB1 Polymorphisms Are Associated with Severe Influenza A (H1N1) Virus Infection in a Canadian Population

  • Suhrobjon Mullo Mirzo,
  • Anand Kumar,
  • Naresh Kumar Sharma,
  • Lin Li,
  • Robert Balshaw,
  • Francis A. Plummer,
  • Ma Luo and
  • Binhua Liang

Background: We examined associations between NFκB1 polymorphisms and influenza A (H1N1) clinical outcomes in Canadian. Methods: A total of thirty-six Caucasian patients admitted to the intensive care unit (ICU) in hospitals in Canada were recru...

  • Review
  • Open Access
109 Citations
18,103 Views
44 Pages

22 October 2019

This review gives an overview on the development of research on spider venoms with a focus on structure and function of venom components and techniques of analysis. Major venom component groups are small molecular mass compounds, antimicrobial (also...

  • Article
  • Open Access
10 Citations
3,210 Views
16 Pages

19 February 2023

As a valuable Chinese traditional medicinal species, Chaenomeles speciosa (Sweet) Nakai (C. speciosa) is a natural resource with significant economic and ornamental value. However, its genetic information is not well understood. In this study, the co...

  • Article
  • Open Access
1 Citations
4,370 Views
7 Pages

Primula poissonii (Primulaceae) is a perennial herb, widely distributed in the Hengduan Mountain region of Southwest China. In this study, Roche 454 pyrosequencing was used to isolate microsatellite markers. A total of 4528 unique sequences were iden...

  • Article
  • Open Access
11 Citations
6,086 Views
12 Pages

25 January 2021

Matrilineal genetic diversity and relationship were investigated among eight morphologically identified native Ethiopian horse populations using polymorphisms in 46 mtDNA D-loop sequences (454 base pairs). The horse populations identified were Abyssi...

  • Article
  • Open Access
7 Citations
2,042 Views
16 Pages

Unveiling the Genomic Features and Biocontrol Potential of Trichoderma hamatum Against Root Rot Pathogens

  • Yuzhou Feng,
  • Xinyi Shuai,
  • Jili Chen,
  • Qing Zhang,
  • Lijie Jia,
  • Luzhi Sun,
  • Yunxia Su,
  • Yanyan Su,
  • Gangqiang Dong and
  • Guangqiang Long
  • + 1 author

8 February 2025

Fusarium species are among the most significant pathogens causing root rot in Panax notoginseng. In this study, a strain of Trichoderma hamatum was isolated from the rhizosphere soil of P. notoginseng and subjected to whole-genome sequencing. Plate c...

  • Article
  • Open Access
10 Citations
10,567 Views
10 Pages

24 December 2012

Papaver rhoeas, an annual plant species in the Papaveraceae family, is part of the biodiversity of agricultural ecosystems and also a noxious agronomic weed. We developed microsatellite markers to study the genetic diversity of P. rhoeas, using an en...

  • Article
  • Open Access
32 Citations
9,856 Views
16 Pages

Polyketide Synthases in the Microbiome of the Marine Sponge Plakortis halichondrioides: A Metagenomic Update

  • Gerardo Della Sala,
  • Thomas Hochmuth,
  • Roberta Teta,
  • Valeria Costantino and
  • Alfonso Mangoni

14 November 2014

Sponge-associated microorganisms are able to assemble the complex machinery for the production of secondary metabolites such as polyketides, the most important class of marine natural products from a drug discovery perspective. A comprehensive overvi...

  • Article
  • Open Access
41 Citations
7,217 Views
14 Pages

Characterization and Development of EST-SSR Markers Derived from Transcriptome of Yellow Catfish

  • Jin Zhang,
  • Wenge Ma,
  • Xiaomin Song,
  • Qiaohong Lin,
  • Jian-Fang Gui and
  • Jie Mei

13 October 2014

Yellow catfish (Pelteobagrus fulvidraco) is one of the most important freshwater fish due to its delicious flesh and high nutritional value. However, lack of sufficient simple sequence repeat (SSR) markers has hampered the progress of genetic selecti...

  • Article
  • Open Access
28 Citations
10,665 Views
11 Pages

First Isolation of a Giant Virus from Wild Hirudo medicinalis Leech: Mimiviridae isolation in Hirudo medicinalis

  • Mondher Boughalmi,
  • Isabelle Pagnier,
  • Sarah Aherfi,
  • Philippe Colson,
  • Didier Raoult and
  • Bernard La Scola

27 November 2013

Giant viruses and amoebae are common in freshwater, where they can coexist with other living multicellular organisms. We screened leeches from the species Hirudo medicinalis for giant viruses. We analyzed five H. medicinalis obtained from Tunisia (3)...

  • Article
  • Open Access
18 Citations
9,692 Views
9 Pages

13 January 2014

Phelipanche ramosa is a parasitic plant that infects numerous crops worldwide. In Western Europe it recently expanded to a new host crop, oilseed rape, in which it can cause severe yield losses. We developed 13 microsatellite markers for P. ramosa us...

  • Article
  • Open Access
19 Citations
8,736 Views
12 Pages

Corynebacterium glutamicum is widely used for amino acid production. In the present study, 543 genes showed a significant change in their mRNA expression levels in l-lysine-producing C. glutamicum ATCC21300 than that in the wild-type C. glutamicum AT...

  • Article
  • Open Access
2 Citations
2,981 Views
14 Pages

The Geochemical Drivers of Bacterial Community Diversity in the Watershed Sediments of the Heihe River (Northern China)

  • Federica Piergiacomo,
  • Luigimaria Borruso,
  • Alfonso Esposito,
  • Stefan Zerbe and
  • Lorenzo Brusetti

17 June 2022

The city of Zhangye (Gansu Region, China) has been subjected to several changes related to the development of new profitable human activities. Unfortunately, this growth has led to a general decrease in water quality due to the release of several tox...

  • Article
  • Open Access
5 Citations
3,072 Views
24 Pages

Diversity of Endolysin Domain Architectures in Bacteriophages Infecting Bacilli

  • Olga N. Koposova,
  • Olesya A. Kazantseva and
  • Andrey M. Shadrin

11 December 2024

The increasing number of antibiotic-resistant bacterial pathogens is a serious problem in medicine. Endolysins are bacteriolytic enzymes of bacteriophages, and a promising group of enzymes with antibacterial properties. Endolysins of bacteriophages i...

  • Article
  • Open Access
32 Citations
7,928 Views
13 Pages

Germline CNV Detection through Whole-Exome Sequencing (WES) Data Analysis Enhances Resolution of Rare Genetic Diseases

  • Faidon-Nikolaos Tilemis,
  • Nikolaos M. Marinakis,
  • Danai Veltra,
  • Maria Svingou,
  • Kyriaki Kekou,
  • Anastasios Mitrakos,
  • Maria Tzetis,
  • Konstantina Kosma,
  • Periklis Makrythanasis and
  • Christalena Sofocleous
  • + 1 author

21 July 2023

Whole-Exome Sequencing (WES) has proven valuable in the characterization of underlying genetic defects in most rare diseases (RDs). Copy Number Variants (CNVs) were initially thought to escape detection. Recent technological advances enabled CNV call...

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