Comparative Study of Genome Divergence in Salmonids with Various Rates of Genetic Isolation by Elena A. Shubina, Mikhail A. Nikitin, Ekaterina V. Ponomareva, Denis V. Goryunov, Oleg F. Gritsenko

“…The restriction fragments were shown with sequencing to represent satellite DNA. Effects of speciation are found in repetitive sequences. …”
Get full text

Single‐egg comet assay: A protocol to quantify DNA damage in natural bioarchives by Rejin Salimraj, Alessio Perotti, Marcin W. Wojewodzic, Dagmar Frisch

“…More generally, the SE‐CA is applicable to testing DNA integrity in individual propagules prior to genome sequencing or to quantify environmental impacts on natural sedimentary biobanks.…”
Get full text

Recombinant human growth hormone treatment of Floating-Harbor syndrome: a case report and literature review by Qing He, Yi Deng, Lei Xu, Zhe Xu, Yi Ding, Menghui Wu

“…Case summary The patient in this case exhibits the most typical features of FHS. Whole exome sequencing (WES) detected a pathogenic variant (c.7303 C > T, p.R2435X) in the SRCAP gene of this patient, which is a denovo variant. …”
Get full text

Comparative analysis of regression algorithms for drug response prediction using GDSC dataset by Soojung Ha, Juho Park, Kyuri Jo

“…However, high-throughput sequencing data produces thousands of features per patient. …”
Get full text

A new atypical splice mutation in PKD2 leading to autosomal dominant polycystic kidney disease in a Chinese family by Junlin Zhang, Yiting Wang, Yingwang Zhao, Fang Liu

“…Methods: In this study, the mutation analysis of polycystic kidney disease (PKD) genes was performed in a Chinese family with suspected ADPKD using targeted clinical exome sequencing (CES). The candidate pathogenic variants were further tested by using Sanger sequencing and validated for co-segregation. …”
Get full text

Metagenome-guided culturomics for the targeted enrichment of gut microbes by Jeremy Armetta, Simone S. Li, Troels Holger Vaaben, Ruben Vazquez-Uribe, Morten O. A. Sommer

“…Here, we combine deep whole-metagenome sequencing with culturomics to selectively enrich for taxa and functional capabilities of interest. …”
Get full text

Circulating Dynamics of SARS-CoV-2 Variants between April 2021 and February 2022 in Turkey by Murat Sayan, Ayse Arikan, Murat Isbilen

“…The diagnosis of new variants and monitoring their potential effects on diagnosis, therapeutics, and vaccines by genomic sequencing is essential to manage global public crises. …”
Get full text

Perinatal Lethal Gaucher Disease due to RecNcil Recombinant Mutation in the GBA Gene Presenting with Hydrops Fetalis and Severe Congenital Anemia by Ekta Bhutada, Timothy Pyragius, Scott G. Petersen, Frans Niemann, Admire Matsika

“…It also emphasizes the importance of perinatal autopsy coupled with exome sequencing in confirming syndromic diagnosis in the modern area.…”
Get full text

Mutanome Engineered RNA Immunotherapy: Towards Patient-Centered Tumor Vaccination by Mathias Vormehr, Barbara Schrörs, Sebastian Boegel, Martin Löwer, Özlem Türeci, Ugur Sahin

“…Advances in nucleic acid sequencing technologies have revolutionized the field of genomics, allowing the efficient targeting of mutated neoantigens for personalized cancer vaccination. …”
Get full text

A Novel p.G141R Mutation in ILDR1 Leads to Recessive Nonsyndromic Deafness DFNB42 in Two Chinese Han Families by Xueling Wang, Longhao Wang, Hu Peng, Tao Yang, Hao Wu

“…In this study, targeted next-generation sequencing (NGS) in two Chinese Han families identified a novel p.G141R homozygous mutation in ILDR1 as the genetic cause of the deafness. …”
Get full text

Devilish Details in Apes and Atoms

“…Nature leads with a preview of an upcoming workshop on sequencing the ape genome. Science leads off this week with a story about a new measurement that comes tantalizingly close to overturning the longstanding Standard Model of particle physics.…”
Get full text

Unveiling early-life microbial colonization profile through characterizing low-biomass maternal-infant microbiomes by 2bRAD-M by Shuwen Hou, Yuesong Jiang, Feng Zhang, Tianfan Cheng, Dan Zhao, Jilong Yao, Ping Wen, Ping Wen, Lijian Jin, Shi Huang

“…We collected breast milk samples, maternal feces, and infant meconium, comparing the results from 2bRAD-M with those from both commonly used 16S rRNA amplicon sequencing and the gold-standard whole metagenomics sequencing (WMS).ResultsThe accuracy and robustness of 2bRAD-M were demonstrated through its consistently high correlation of microbial individual abundance and low whole-community-level distance with the paired WMS samples. …”
Get full text

Detection of I491F and V170F rpoB mutations associated with misdiagnosis of rifampicin resistance among patients with drug-susceptible tuberculosis treatment failure, Myanmar, 2022 by Phyu Win Ei, Mi Mi Htwe, Myat Htut Nyunt, Aye Su Mon, Zaw Myint, Wint Wint Nyunt, Su Mon Win, Sandar Aung, Wai Myat Thwe, Wah Wah Aung

“…Whole genome or Deeplex-targeted next-generation sequencing was performed using Illumina Miseq. Mutation analysis was done by PhyResSE and SAM-TB online platforms. …”
Get full text

Molecular genetic detection and differentiation of <i>Xanthomonas oryzae</i> pv. <i>oryzicola</i>, bacterial leaf streak agents of rice by M. L. Koroleva, S. A. Blinova, A. A. Shvartsev, V. E. Kurochkin, Ya. I. Alekseev

“…The SeqX.o.all sequencing primers were selected for the hrp gene cluster sequence, namely for the nucleotide sequence encoding the Hpa1 protein, the sequencing of which allows for eff icient differentiation of X. oryzae species. …”
Get full text

Assessing the impact of sewage and wastewater on antimicrobial resistance in nearshore Antarctic biofilms and sediments by Melody S Clark, Benjamin H Gregson, Carla Greco, Harisree Paramel Nair, Marlon Clark, Claire Evans, Kevin A. Hughes, Kudzai Hwengwere, Marcus Leung, Lloyd S Peck, Caray A. Walker, William Chow

“…Analysis of AMR genes generated from long-reads Nanopore MinION sequencing showed similar site variability in both drug class and resistance mechanism. …”
Get full text

Transcriptome Analysis of Effect of Cordyceps militaris Aqueous Extract in Human Gastric Cancer Cell BGC-823 on Different RCD Pathways by Mingqi CUI, Kaiwen YU, Yang SONG, Fangxu XU, Shenghou WANG, Ze WANG

“…A total of 5885 differentially expressed genes were identified through transcriptome sequencing analysis, with significant enrichment in the apoptosis (P=0.001) and autophagy (P=0.008) signaling pathways. …”
Get full text

Progression from Sustained BK Viruria to Sustained BK Viremia with Immunosuppression Reduction Is Not Associated with Changes in the Noncoding Control Region of the BK Virus Genome by Imran A. Memon, Bijal A. Parikh, Monique Gaudreault-Keener, Rebecca Skelton, Gregory A. Storch, Daniel C. Brennan

“…We performed PCR amplification and sequencing of (1) stored urine and (2) plasma samples from the time of peak viremia from 11 patients with sustained viremia who participated in a 200-patient clinical trial. …”
Get full text

Mutations in Mycobacterium tuberculosis Isolates with Discordant Results for Drug-Susceptibility Testing in Peru by L. Solari, D. Santos-Lazaro, Z. M. Puyen

“…Discordance was confirmed by repeating both tests, and WGS was performed, using the Next Generation Sequencing methodology. Obtained sequences were aligned “through reference” (genomic mapping) using the program BWA with the algorithm “mem”, using as a reference the genome of the M. tuberculosis H37Rv strain. …”
Get full text

Copper Tolerance of <i>Trichoderma koningii</i> Tk10 by Kehe Fu, Lili Fan, Jiaming Ji, Xiayu Qiu

“…Whole-genome sequencing revealed six genes associated with copper tolerance, including one superoxide dismutase gene, one peroxidase gene, and three catalase genes linked to copper stress. …”
Get full text

Identification and Characterization of Arcanobacterium canis from Companion Animals in Germany and The United Kingdom by Siti Gusti Ningrum, Antonia Kreitlow, Christoph Lämmler, Ellen Prenger-Berninghoff, Christa Ewers, Geoffrey Foster, Madeleine Plötz, Amir Abdulmawjood

“…Both isolates were analyzed using culture methods, biochemical analysis, MALDI-TOF MS, real-time PCR amplification and sequencing of the 16S rRNA gene, and rpoB, gap, and tuf genes. …”
Get full text