Filters








19,610 Hits in 6.5 sec

State of mutation testing at google

Goran Petrović, Marko Ivanković
2018 Proceedings of the 40th International Conference on Software Engineering Software Engineering in Practice - ICSE-SEIP '18  
Mutation testing assesses test suite efficacy by inserting small faults into programs and measuring the ability of the test suite to detect them.  ...  The system processes about 30% of all diffs across Google that have statement coverage calculated. About 15% of coverage statement calculations fail across Google.  ...  Targeted mutation and careful finding surfacing has been critical for the adoption of the mutation testing in Google.  ... 
doi:10.1145/3183519.3183521 dblp:conf/icse/PetrovicI18 fatcat:qqc2npbucfgepeu4c2vwezmzqm

Molecular Investigation of Chicken Acid-Sensing Ion Channel 1 β11-12 Linker Isomerization and Channel Kinetics

Matthew L. Rook, Anna Ananchenko, Maria Musgaard, David M. MacLean
2021 Frontiers in Cellular Neuroscience  
To accelerate channel behavior, we first identified the channel mutations at either the Leu414 or Asn415 position with the fastest recovery kinetics followed by molecular dynamics simulations of these  ...  Interestingly, very few mutations in the loop allow for equivalent channel kinetics and desensitized state stability.  ...  before a test pulse of pH 5 is applied.  ... 
doi:10.3389/fncel.2021.761813 pmid:34924957 pmcid:PMC8675884 fatcat:mikfr5357fakdaav5zr5yyempi

Whole-Genome Sequencing to Identify Missed Rifampicin and Isoniazid Resistance Among Tuberculosis Isolates—Chennai, India, 2013–2016

Sembulingam Tamilzhalagan, Sivakumar Shanmugam, Ashok Selvaraj, Sakthi Suba, Chittibabu Suganthi, Patrick K. Moonan, Diya Surie, Mukesh Kumar Sathyanarayanan, Narayanan Shivaram Gomathi, Lavanya Jayabal, Kuldeep Singh Sachdeva, Sriram Selvaraju (+4 others)
2021 Frontiers in Microbiology  
WGS may help inform effective treatment selection for persons at risk of, or diagnosed with, DR TB.  ...  India has a high burden of drug-resistant tuberculosis (DR TB) and many cases go undetected by current drug susceptibility tests (DSTs).  ...  phenotypic RIF resistance at a MGIT RIF DST concentration of 1 μg/ml.  ... 
doi:10.3389/fmicb.2021.720436 pmid:34880835 pmcid:PMC8645853 fatcat:yqzzo4d53napjk32vi7p5jwtuy

Establishment of Novel Genotoxicity Assay System Using Murine Normal Epithelial Tissue-Derived Organoids

Masami Komiya, Rikako Ishigamori, Mie Naruse, Masako Ochiai, Noriyuki Miyoshi, Toshio Imai, Yukari Totsuka
2021 Frontiers in Genetics  
When the organoids were exposed to foodborne carcinogens—2-amino-1-methyl-6-phenylimidazo(4,5-b)pyridine (PhIP) and acrylamide (AA)—in the presence of metabolic activation systems, mutation frequencies  ...  Moreover, the mutation spectrum analysis indicated predominant G:C to T:A transversion with PhIP, and A:T to C:G and A:T to T:A transversion with AA.  ...  ., three out of 27 AA-induced deletion mutations occurred at positions 114 and 211.  ... 
doi:10.3389/fgene.2021.768781 pmid:34868254 pmcid:PMC8638810 fatcat:uhv2jxw3arbizmdcs2z5jzekwy

Multi-Omics Characterization of Tumor Microenvironment Heterogeneity and Immunotherapy Resistance Through Cell States–Based Subtyping in Bladder Cancer

Rixin Hu, Tao Tao, Lu Yu, Qiuxia Ding, Guanghui Zhu, Guoyu Peng, Shiwen Zheng, Leyun Yang, Song Wu
2022 Frontiers in Cell and Developmental Biology  
a novel perspective of cell states.  ...  Despite various subtyping methods proposed previously, most of them are based on a limited number of molecules, and none of them is developed on the basis of cell states.  ...  (D) RB1 mutation correlated with bad histologic subtype (chi-squared test, p = .0133), high grade (chi-squared test, p = .0180), high metastasis stage (chi-squared test, p = .0207), and more smoking  ... 
doi:10.3389/fcell.2021.809588 pmid:35223867 pmcid:PMC8864284 fatcat:iuxhlvj2cvdd7gr2lz5hc7z7ae

Pathogenic in-Frame Variants in SCN8A: Expanding the Genetic Landscape of SCN8A-Associated Disease

Jennifer C. Wong, Kameryn M. Butler, Lindsey Shapiro, Jacquelyn T. Thelin, Kari A. Mattison, Kathryn B. Garber, Paula C. Goldenberg, Shobana Kubendran, G. Bradley Schaefer, Andrew Escayg
2021 Frontiers in Pharmacology  
Mouse models generated by knock-in of human missense SCN8A mutations exhibit seizures and a range of behavioral abnormalities.  ...  Numerous SCN8A mutations have been identified, of which, the majority are de novo missense variants.  ...  School of Medicine-Wichita, Wichita, KS, United States 5 University of Arkansas for Medical Sciences, Little Rock, AR, United States Numerous SCN8A mutations have been identified, of which, the majority  ... 
doi:10.3389/fphar.2021.748415 pmid:34867351 pmcid:PMC8635767 fatcat:ehluctfptbc4befyzzh36yqdge

TMPRSS3 Gene Variants With Implications for Auditory Treatment and Counseling

In Seok Moon, Andrew R. Grant, Varun Sagi, Heidi L. Rehm, Konstantina M. Stankovic
2021 Frontiers in Genetics  
Genetic testing included sequencing and copy number variation (CNV) analysis of TMPRSS3 and the Laboratory for Molecular Medicine's OtoGenome-v1, -v2, or -v3 panels.  ...  Clinical data regarding patient hearing rehabilitation was interpreted along with their genetic testing results and in the context of previously reported cochlear implant outcomes in individuals with TMPRSS3  ...  Age at genetic testing, age at onset of hearing loss, and other relevant clinical information is provided, when available, for patients and family members.  ... 
doi:10.3389/fgene.2021.780874 pmid:34868270 pmcid:PMC8641783 fatcat:kx7q3ksncrflhbx2isq4jprlke

The Risk Stratification of Papillary Thyroid Cancer With Bethesda Category III (Atypia of Undetermined Significance/Follicular Lesion of Undetermined Significance) by Thyroid Fine‐Needle Aspiration Could Be Assisted by Tumor Size for Precision Treatment

Xiaojuan Zha, Zhenchun Miao, Xiu Huang, Xingchun Wang, Ruting Xie, Jiaoying Jin, Dajin Zou, Peng Yang, Yueye Huang
2022 Frontiers in Endocrinology  
Nodules with a size over 1 cm harboring WT-BRAF or those under 1 cm harboring BRAF V600E mutation could be regarded as moderate risk, and molecular testing should be recommended.  ...  The rates of lymph node metastases, multifocality, and extra-thyroid extension were significantly increased with larger sizes harboring BRAF V600E mutation.  ...  Molecular Testing for Thyroid Nodules: Review and Current State. Cancer (2018) 124:888–98. doi: 10.1002/cncr.30708 PubMed Abstract | CrossRef Full Text | Google Scholar 26. Ooi LY, Nga ME.  ... 
doi:10.3389/fendo.2022.822423 pmid:35197932 pmcid:PMC8859163 fatcat:hqw43jr2arb2rfeklsbwmhuv34

Association Between Tumor Mutation Profile and Clinical Outcomes Among Hispanic-Latino Patients With Metastatic Colorectal Cancer

Alexander Philipovskiy, Reshad Ghafouri, Alok Kumar Dwivedi, Luis Alvarado, Richard McCallum, Felipe Maegawa, Ioannis T. Konstantinidis, Nawar Hakim, Scott Shurmur, Sanjay Awasthi, Sumit Gaur, Javier Corral
2022 Frontiers in Oncology  
In the United States, CRC is the third most common type of cancer and the second leading cause of cancer-related death.  ...  The combination of mutations in the APC, NOTCH, and KRAS genes in the same tumors was associated with a higher risk of progression after first-line of chemotherapy and overall survival.  ...  The majority of the mutations in APC (Figure 1), were frameshift mutations at 59.2%, followed by point mutations at 40.8%.  ... 
doi:10.3389/fonc.2021.772225 pmid:35141142 pmcid:PMC8819001 fatcat:fh5wsh2ymnapfkteu6zk4v2egy

Characteristics of Germline Non-BRCA Mutation Status of High-Risk Breast Cancer Patients in China and Correlation with High-Risk Factors and Multigene Testing Suggestions

Yifan Su, Qianlan Yao, Yuyin Xu, Chengli Yu, Jing Zhang, Qian Wang, Jiwei Li, Di Shi, Baohua Yu, Yupeng Zeng, Xiaoli Zhu, Qianming Bai (+1 others)
2021 Frontiers in Genetics  
With the increasing application of multigene panels, testing for genes beyond BRCA1/2 has become more prevalent.  ...  comprehensive gene mutation testing in China, especially HRR genes, which are not only related to high risk of breast cancer, but also potentially related to poly ADP ribose polymerase inhibitor (PARPi  ...  testing to assess whether they are at risk of hereditary cancer (Manahan et al., 2019).  ... 
doi:10.3389/fgene.2021.674094 pmid:34917121 pmcid:PMC8670232 fatcat:s2fenv6plvbgjmgxludv4xppha

Signatures Beyond Oncogenic Mutations in Cell-Free DNA Sequencing for Non-Invasive, Early Detection of Cancer

Subhajyoti De
2021 Frontiers in Genetics  
disease states.  ...  fail to detect rare tumors at unusual locations; on the other hand, even a modest false positive rate carries risks of over-diagnosis and over-treatment of relatively indolent non-malignant disease.  ...  disease states.  ... 
doi:10.3389/fgene.2021.759832 pmid:34721546 pmcid:PMC8551553 fatcat:xrxm6pni5vfztbh4plgvdk75fi

Automated Software Vulnerability Testing Using In-Depth Training Methods

Alexandr Kuznetsov, Oleksiy Shapoval, Kyrylo Chernov, Yehor Yeromin, Mariia Popova, Olga Syniavska
2019 Computer Modeling and Intelligent Systems  
The use of simple fuzzer and Deep Reinforcement Learning algorithm shows that the amount of mutations necessary to find vulnerabilities decreases by 30%.  ...  Features of fuzzing realization (which is based on making many inputs with different mutated data) are also studied.  ...  For example, Intrusion Detection and Prevention Systems [39] [40] [41] [42] are also can be built using some elements of artificial intelligence.  ... 
doi:10.32782/cmis/2353-18 fatcat:hdnk6r3fzbhe7huvnnyufktewy

Liver Failure in a Chinese Cystic Fibrosis Child With Homozygous R553X Mutation

Haiyan Li, Li Lin, Xiaoguang Hu, Changchong Li, Hailin Zhang
2019 Frontiers in Pediatrics  
80 to 90 U/L, which began at 8 months of age and lasted for 4 years without CF diagnosis.  ...  In addition, abdominal computed tomography (CT) revealed diffuse fatty infiltration of the liver at 4 years old and gradually developed hepatic cirrhosis.  ...  Pulmonary function tests failed to be performed because of the difficulty at this young age for the child.  ... 
doi:10.3389/fped.2019.00036 pmid:30842938 pmcid:PMC6391319 fatcat:2seiqk772rdgnnuzhoj66ku4kq

Kinetically Stabilizing Mutations in Beta Tubulins Create Isotype-Specific Brain Malformations

Kristen Park, Katelyn J. Hoff, Linnea Wethekam, Nicholas Stence, Margarita Saenz, Jeffrey K. Moore
2021 Frontiers in Cell and Developmental Biology  
Mutations in the family of genes encoding the tubulin subunits of microtubules are associated with a spectrum of human brain malformations known as tubulinopathies.  ...  microtubules that assemble and disassemble slowly, with fewer transitions between these states.  ...  She was referred to our neurogenetics clinic at 3 years of age where repeat review of her MRI was suggestive of a tubulinopathy such that targeted testing for cortical brain malformation genes via NGS  ... 
doi:10.3389/fcell.2021.765992 pmid:34869359 pmcid:PMC8637541 fatcat:e2bpwdrvhfhphpx7o5n53acrum

Characterization of Loss-Of-Function KCNJ2 Mutations in Atypical Andersen Tawil Syndrome

Pauline Le Tanno, Mathilde Folacci, Jean Revilloud, Laurence Faivre, Gabriel Laurent, Lucile Pinson, Pascal Amedro, Gilles Millat, Alexandre Janin, Michel Vivaudou, Nathalie Roux-Buisson, Julien Fauré
2021 Frontiers in Genetics  
Andersen-Tawil Syndrome (ATS) is a rare disease defined by the association of cardiac arrhythmias, periodic paralysis and dysmorphic features, and is caused by KCNJ2 loss-of-function mutations.  ...  , mostly due to RYR2 mutations.  ...  HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies: This Document Was Developed as a Partnership between the Heart Rhythm Society (HRS) and  ... 
doi:10.3389/fgene.2021.773177 pmid:34899860 pmcid:PMC8655864 fatcat:sz3frauclzdsrjgqgi5duxwafi
« Previous Showing results 1 — 15 out of 19,610 results