Fully automated extraction of high-quality total nucleic acids from FFPE specimens for comprehensive genomic profiling of solid tumors by Kristopher Amirault, Michael Collins, Luca Beker, Brandon Mills, Martina Werner, Jonathan Andreas, Daniel Hartman, Jordan Dargert, Vanessa Process, Sean Cederlund, Thuy Dao, Linnea Menin, Molly Ferrara, Andrew Briggs, Joshua Shreve, Daniel Metzger, Angela Stout, Erin Deblasi, Jie An, Taylor Jensen, Shengle Zhang, Vinesh Rana, Bryn Burlingame, Ulrich Thomann, Durga Prasad Dash, Sha Liao, Jeffrey M. Conroy, Eugenio Daviso

“…By identifying actionable mutations through next-generation sequencing of solid tumors CGP enables targeted therapy decisions. …”
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A joint analysis of single cell transcriptomics and proteomics using transformer by Yuanyuan Chen, Xiaodan Fan, Chaowen Shi, Zhiyan Shi, Chaojie Wang

“…This computation-based approach significantly reduces the experimental costs of protein expression sequencing. We are now able to predict protein expression using single-cell RNA sequencing (scRNA-seq) data, which is well-established and available at a lower cost. …”
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Will the Amaranthus tuberculatus Resistance Mechanism to PPO-Inhibiting Herbicides Evolve in Other Amaranthus Species? by Chance W. Riggins, Patrick J. Tranel

“…However, sequencing revealed two distinct repeat patterns encompassing the mutation site. …”
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Novel Mutations in the MKKS, BBS7, and ALMS1 Genes in Iranian Children with Clinically Suspected Bardet–Biedl Syndrome by Roghayeh Dehghan, Mahdiyeh Behnam, Mansoor Salehi, Roya Kelishadi

“…In this study, we used whole-exome sequencing (WES) to investigate the underlying mutations in four Iranian children from consanguineous families with a clinical diagnosis of Bardet–Biedl syndrome (BBS). …”
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Characterization of the Emerging Enteropathogen Escherichia Albertii Isolated from Urine Samples of Patients Attending Sapporo Area Hospitals, Japan by Miyuki Fujioka, Sho Yoshioka, Masahiko Ito, Chowdhury Rafiqul Ahsan

“…In this study, we performed biochemical characterization, gene possession status, drug susceptibility testing, and sequencing analysis of the strains detected in urine samples. …”
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A CACTA-like transposon in the Anthocyanidin synthase 1 (Ans-1) gene is responsible for apricot fruit colour in the raspberry (Rubus idaeus) cultivar 'Varnes'. by Daniel James Sargent, Matteo Buti, Stefan Martens, Claudio Pugliesi, Kjersti Aaby, Dag Røen, Chandra Bhan Yadav, Felicidad Fernández Fernández, Muath Alsheikh, Jahn Davik, R Jordan Price

“…By performing RNASeq, we revealed differential expression patterns in the apricot-fruited 'Varnes' for genes in the anthocyanin biosynthesis pathway and following whole genome sequencing using long-read Oxford Nanopore Technologies sequencing, we identified a CACTA-like transposable element (TE) in the second exon of the Anthocyanidin synthase (Ans) gene that caused a truncated predicted ANS protein. …”
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HaVec: An Efficient de Bruijn Graph Construction Algorithm for Genome Assembly by Md Mahfuzer Rahman, Ratul Sharker, Sajib Biswas, M. Sohel Rahman

“…The rapid advancement of sequencing technologies has made it possible to regularly produce millions of high-quality reads from the DNA samples in the sequencing laboratories. …”
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Prospects for marker-associated selection in tomato <i>Solanum lycopersicum</i> L. by A. B. Shcherban

“…A separate chapter is devoted to the use of various types of DNA markers for constructing detailed genetic maps of the specified object, which, along with full-genome sequencing data, can be used to screen for genes responsible for breeding traits. …”
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Advanced Genetic Testing Comes to the Pain Clinic to Make a Diagnosis of Paroxysmal Extreme Pain Disorder by Ashley Cannon, Svetlana Kurklinsky, Kimberly J. Guthrie, Douglas L. Riegert-Johnson

“…To describe the use of an advanced genetic testing technique, whole exome sequencing, to diagnose a patient and their family with a SCN9A channelopathy. …”
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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. …”
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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.…”
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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. …”
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Expanding the Phenotype of Congenital Glucocorticoid Deficiency: An Iranian Patient with Cholestasis due to Pathogenic Variants in the MC2R Gene by Shohreh Maleknejad, Setila Dalili, Ameneh Sharifi, Afagh Hassanzadeh Rad, Reza Bayat, Bahareh Rabbani, Nejat Mahdieh

“…Clinical evaluations and lab assessments were conducted on a six-month-old male infant. Next-generation sequencing identified the genetic causes of the disease, and Sanger sequencing confirmed the variants through segregation analysis. …”
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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. …”
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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. …”
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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. …”
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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. …”
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From museum drawer to tree: Historical DNA phylogenomics clarifies the systematics of rare dung beetles (Coleoptera: Scarabaeinae) from museum collections. by Fernando Lopes, Nicole Gunter, Conrad P D T Gillett, Giulio Montanaro, Michele Rossini, Federica Losacco, Gimo M Daniel, Nicolas Straube, Sergei Tarasov

“…Although several methods exist for extracting and sequencing historical DNA originating from dry-preserved insect specimens deposited in natural history museums, no consensus exists as to what is the optimal approach. …”
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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.…”
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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. …”
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