Vegetable peas (Pisum sativum L.) diversity: An analysis of available elite germplasm resources with relevance to crop improvement by Jyoti DEVI, Rakesh K. DUBEY, Vidya SAGAR, Ravindra K. VERMA, Prabhakar M. SINGH, Tusar K. BEHERA

“… Aim of study: To determine the amount of diversity in pea breeding materials with the objective to classify a set of potential parents carrying novel/economic variations that could be used in future breed pea varieties. …”
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Comprehensive mutation detection of BRCA1/2 genes reveals large genomic rearrangements contribute to hereditary breast and ovarian cancer in Chinese women by Wen-Ming Cao, Ya-Bing Zheng, Yun Gao, Xiao-Wen Ding, Yan Sun, Yuan Huang, Cai-Jin Lou, Zhi-Wen Pan, Guang Peng, Xiao-Jia Wang

“…Among the rest of 174 samples, five were found carrying novel deleterious LGRs in BRCA1 which are exon5-7dup (1 patient), exon13-14dup (2 patients), and exon1-22del (2 patients). …”
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GnRH Deficient Patients With Congenital Hypogonadotropic Hypogonadism: Novel Genetic Findings in ANOS1, RNF216, WDR11, FGFR1, CHD7, and POLR3A Genes in a Case Series and Review of... by Vassos Neocleous, Vassos Neocleous, Pavlos Fanis, Pavlos Fanis, Meropi Toumba, Meropi Toumba, George A. Tanteles, George A. Tanteles, Melpo Schiza, Melpo Schiza, Feride Cinarli, Feride Cinarli, Nicolas C. Nicolaides, Nicolas C. Nicolaides, Anastasis Oulas, Anastasis Oulas, George M. Spyrou, George M. Spyrou, Christos S. Mantzoros, Christos S. Mantzoros, Dimitrios Vlachakis, Dimitrios Vlachakis, Dimitrios Vlachakis, Nicos Skordis, Nicos Skordis, Nicos Skordis, Leonidas A. Phylactou, Leonidas A. Phylactou

“…A rare autosomal recessive (AR) variant in the SRA1 gene was identified in homozygosity in a female patient, whilst two other male patients were also, respectively, found to carry novel or previously reported rare pathogenic variants in more than one genes; FGFR1/POLR3A and SRA1/RNF216.Conclusion: This report embraces the description of novel and previously reported rare pathogenic variants in a series of genes known to be implicated in the biological development of CHH. …”
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Spectrum of Apolipoprotein AI and Apolipoprotein AII Proteoforms and Their Associations With Indices of Cardiometabolic Health: The CARDIA Study by John T. Wilkins, Henrique S. Seckler, Jonathan Rink, Philip D. Compton, Luca Fornelli, C. Shad Thaxton, Rich LeDuc, David Jacobs, Peter F. Doubleday, Allan Sniderman, Donald M. Lloyd‐Jones, Neil L. Kelleher

“…Measuring 15 apoAI and 9 apoAII proteoforms, 6 of which carried novel post‐translational modifications, we quantified associations between percent proteoform abundance and key cardiometabolic indices. …”
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Analysis of <named-content content-type="genus-species">Vibrio cholerae</named-content> Genome Sequences Reveals Unique <italic toggle="yes">rtxA</italic> Variants in Environmental... by Jazel Dolores, Karla J. F. Satchell

“…Two environmental isolates carry novel arrangements of effector domains. These include a variant from RC385 that would suggest an adenylate cyclase toxin and from HE-09 that may have actin ADP-ribosylating activity. …”
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Optimizing Selection of the Reference Population for Genotype Imputation From Array to Sequence Variants by Adrien M. Butty, Mehdi Sargolzaei, Mehdi Sargolzaei, Filippo Miglior, Paul Stothard, Flavio S. Schenkel, Birgit Gredler-Grandl, Birgit Gredler-Grandl, Christine F. Baes, Christine F. Baes

“…In conclusion, if imputed sequences are to be used for discovery of novel associations between variants and traits of interest in the population, animals carrying novel information should be selected and, consequently, the Genetic Diversity Index method proposed here may be used. …”
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Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxiaResearch in context by Hang Lyu, Christian M. Boßelmann, Katrine M. Johannesen, Mahmoud Koko, Juan Dario Ortigoza-Escobar, Sergio Aguilera-Albesa, Deyanira Garcia-Navas Núñez, Tarja Linnankivi, Eija Gaily, Henriette J.A. van Ruiten, Ruth Richardson, Cornelia Betzler, Gabriella Horvath, Eva Brilstra, Niels Geerdink, Daniele Orsucci, Alessandra Tessa, Elena Gardella, Zofia Fleszar, Ludger Schöls, Holger Lerche, Rikke S. Møller, Yuanyuan Liu

“…Methods: We collected genetic and electro-clinical data of ten individuals from nine unrelated families carrying novel SCN8A variants associated with chronic progressive or episodic ataxia. …”
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Diabetes management in Wolcott-Rallison syndrome: analysis from the German/Austrian DPV database by Alena Welters, Thomas Meissner, Katja Konrad, Clemens Freiberg, Katharina Warncke, Sylvia Judmaier, Olga Kordonouri, Michael Wurm, Matthias Papsch, Gisela Fitzke, Silke Christina Schmidt, Sascha R. Tittel, Reinhard W. Holl

“…To the best of our knowledge three patients carried novel mutations in EIF2AK3. Conclusion Insulin requirements of individuals with WRS registered in DPV appear to be comparable to those of preschool children with well-controlled type 1 diabetes, while glycaemic control tends to be worse and episodes of SH tend to be more common. …”
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LARGE RETROSPECTIVE WGS STUDY DESCRIBES GENOMIC EPIDEMIOLOGY OF S. AUREUS IN INDIA AND REVEALS TWO NOVEL MULTI-DRUG RESISTANT SUB-LINEAGES OF S. AUREUS CLONAL COMPLEX 22 by V. Shamanna, M. Abrudan, G. Nagaraj, S. Gregorio, A. Underwood, S. Argimón, V. Govindan, S. Dharmavaram, D. Aanensen, K.L. Ravikumar

“…AMR genotypes were predicted using Staphopia. Isolates carrying novel SCCmec cassettes were further characterized using long-read sequencing. …”
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CRISPR/Cas9-induced modification of the conservative promoter region of VRN-A1 alters the heading time of hexaploid bread wheat by Dmitry Miroshnichenko, Dmitry Miroshnichenko, Dmitry Miroshnichenko, Vadim Timerbaev, Vadim Timerbaev, Vadim Timerbaev, Anna Klementyeva, Alexander Pushin, Alexander Pushin, Tatiana Sidorova, Dmitry Litvinov, Dmitry Litvinov, Lubov Nazarova, Lubov Nazarova, Olga Shulga, Olga Shulga, Mikhail Divashuk, Mikhail Divashuk, Gennady Karlov, Elena Salina, Sergey Dolgov, Sergey Dolgov

“…New mutations stably inherited in subsequent progenies and transgene-free homozygous plants carrying novel VRN-A1 variants were generated. Minor changes in the promoter sequence, such as 1–4 nucleotide insertions/deletions, had no effect on the heading time of plants, whereas the CRISPR/Cas9-mediated 8 bp deletion between −125 and −117 bp of the vrn-A1 promoter shortened the time of head emergence by up to 2-3 days. …”
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Characterization of Leaf Rust Resistance in International Barley Germplasm Using Genome-Wide Association Studies by Laura A. Ziems, Lovepreet Singh, Peter M. Dracatos, Mark J. Dieters, Miguel Sanchez-Garcia, Ahmed Amri, Ramesh Pal Singh Verma, Robert F. Park, Davinder Singh

“…Based on greenhouse seedling tests and adult-plant field tests, 84 genotypes (73.7%) were identified as carrying APR, and genotyping with molecular markers linked closely to three known APR genes (<i>Rph20</i>, <i>Rph23</i> and <i>Rph24</i>) revealed that 48 of the 84 genotypes (57.1%) likely carry novel (uncharacterized) sources of APR. Seven lines were found to carry known APR gene combinations (<i>Rph20+Rph23</i>, <i>Rph23+Rph24</i> and <i>Rph20+Rph24</i>), and these lines had higher levels of field resistance compared to those carrying each of these three APR genes singly. …”
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A Klebsiella variicola Plasmid Confers Hypermucoviscosity-Like Phenotype and Alters Capsule Production and Virulence by Nadia Rodríguez-Medina, Nadia Rodríguez-Medina, Esperanza Martínez-Romero, Miguel Angel De la Cruz, Miguel Angel Ares, Humberto Valdovinos-Torres, Jesús Silva-Sánchez, Luis Lozano-Aguirre, Jesús Martínez-Barnetche, Veronica Andrade, Ulises Garza-Ramos

“…These data suggest that the pKV8917 plasmid carries novel hmv and capsule determinants. Whole-plasmid sequencing and analysis revealed that pKV8917 does not contain rmpADC/rmpA2 genes; thus, an alternative mechanism was searched. …”
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Genome-Wide Association Analysis Pinpoints Additional Major Genomic Regions Conferring Resistance to Soybean Cyst Nematode (Heterodera glycines Ichinohe) by Dung T. Tran, Clinton J. Steketee, Jeffrey D. Boehm, James Noe, Zenglu Li

“…The significant SNPs, candidate genes, and newly characterized SCN resistant accessions will be beneficial for the development of DNA markers to be used for marker-assisted breeding and developing soybean cultivars carrying novel sources of SCN resistance.…”
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Identification of Single-Nucleotide Polymorphisms (SNPs) Associated with Heat Tolerance at the Reproductive Stage in Synthetic Hexaploid Wheats Using GWAS by Ambreen Mehvish, Abdul Aziz, Birra Bukhari, Humaira Qayyum, Zahid Mahmood, Muhammad Baber, Muhammad Sajjad, Xuequn Pang, Fenglan Wang

“…It is likely that QTNs on the D genome and those in proximity to HSPs may carry novel alleles for heat-tolerance genes. The analysis of <i>TaHST1</i> indicated that 15 haplotypes were present in the SHWs for this locus, while hap1 showed the highest frequency of 25% (33 SHWs). …”
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Novel Variants in the <i>CLCN1</i>, <i>RYR2</i>, and <i>DCTN1</i> Found in Elderly Japanese Dementia Patients: A Case Series by Atsushi Hori, Tomohiko Ai, Miwa Isshiki, Yumiko Motoi, Kouji Yano, Yoko Tabe, Nobutaka Hattori, Takashi Miida

“…In this case series, we presented three cases of dementia with unknown causes who carry novel variants in the genes associated with neurodegenerative diseases. …”
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Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders by Ilaria Mannucci, Nghi D. P. Dang, Hannes Huber, Jaclyn B. Murry, Jeff Abramson, Thorsten Althoff, Siddharth Banka, Gareth Baynam, David Bearden, Ana Beleza-Meireles, Paul J. Benke, Siren Berland, Tatjana Bierhals, Frederic Bilan, Laurence A. Bindoff, Geir Julius Braathen, Øyvind L. Busk, Jirat Chenbhanich, Jonas Denecke, Luis F. Escobar, Caroline Estes, Julie Fleischer, Daniel Groepper, Charlotte A. Haaxma, Maja Hempel, Yolanda Holler-Managan, Gunnar Houge, Adam Jackson, Laura Kellogg, Boris Keren, Catherine Kiraly-Borri, Cornelia Kraus, Christian Kubisch, Gwenael Le Guyader, Ulf W. Ljungblad, Leslie Manace Brenman, Julian A. Martinez-Agosto, Matthew Might, David T. Miller, Kelly Q. Minks, Billur Moghaddam, Caroline Nava, Stanley F. Nelson, John M. Parant, Trine Prescott, Farrah Rajabi, Hanitra Randrianaivo, Simone F. Reiter, Janneke Schuurs-Hoeijmakers, Perry B. Shieh, Anne Slavotinek, Sarah Smithson, Alexander P. A. Stegmann, Kinga Tomczak, Kristian Tveten, Jun Wang, Jordan H. Whitlock, Christiane Zweier, Kirsty McWalter, Jane Juusola, Fabiola Quintero-Rivera, Utz Fischer, Nan Cher Yeo, Hans-Jürgen Kreienkamp, Davor Lessel

“…Results We identified 25 previously unreported individuals, ten of whom carry novel variants, two of which are recurrent, and provide evidence of gonadal mosaicism in one family. …”
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Novel GTF2I–PDGFRB and IKZF1–TYW1 fusions in pediatric leukemia with normal karyotype by Ioannis Panagopoulos, Marta Brunetti, Margrethe Stoltenberg, Rønnaug A. U. Strandabø, Julie Staurseth, Kristin Andersen, Ilyá Kostolomov, Tarjei S. Hveem, Susanne Lorenz, Tove Anita Nystad, Trond Flægstad, Francesca Micci, Sverre Heim

“…Conclusions The examined pediatric leukemia is a Ph-like ALL which carries novel GTF2I–PDGFRB and IKZF1–TYW1 fusion genes together with additional submicroscopic deletions. …”
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Characterization of two novel colistin resistance gene mcr-1 variants originated from Moraxella spp. by Yongliang Che, Yongliang Che, Renjie Wu, Renjie Wu, Hongjie Li, Longbai Wang, Longbai Wang, Xuemin Wu, Xuemin Wu, Qiuyong Chen, Qiuyong Chen, Rujing Chen, Rujing Chen, Lunjiang Zhou, Lunjiang Zhou

“…The Moraxella spp. carrying novel mcr-1 variants were subjected to whole-genome sequencing (WGS) and phylogenetic analysis based on the 16S rRNA gene. …”
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Development of high-speed two-photon microscopy for biological and medical applications by Kim, Ki Hean

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Source Tracking and Global Distribution of the Tigecycline Non-Susceptible tet(X) by Rong-min Zhang, Jian Sun, Ruan-yang Sun, Min-ge Wang, Chao-yue Cui, Liang-xing Fang, Mei-na Liao, Xiao-qing Lu, Yong-xin Liu, Xiao-Ping Liao, Ya-Hong Liu

“…These tet(X) genes were dominated by tet(X2)-like orthologs but we also identified 12 samples carrying novel tet(X) genes, designed tet(X45), tet(X46), and tet(X47), were resistant to tigecycline. …”
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