Results 91 to 100 of about 225,081 (303)

Wessim: a whole-exome sequencing simulator based on in silico exome capture [PDF]

Bioinformatics, 2013
Abstract Summary: We propose a targeted re-sequencing simulator Wessim that generates synthetic exome sequencing reads from a given sample genome. Wessim emulates conventional exome capture technologies, including Agilent’s SureSelect and NimbleGen’s SeqCap, to generate DNA fragments from genomic target regions. The target regions can be
Sangwoo, Kim, Kyowon, Jeong, Vineet, Bafna   +2 more
openaire   +3 more sources

Spatial Profiling Reveals Distinct Molecular and Immune Evolution of Mouse Lung Adenocarcinoma Precancers with or Without Carcinogen Exposure

Advanced Science, EarlyView.
Tumor evolution in lung adenocarcinoma is shaped by genetic alterations and spatial immune dynamics. By integrating whole‐exome sequencing, imaging mass cytometry, and spatial transcriptomics across two mouse models, this study reveals how mutational burden, immune infiltration, and cell–state interactions evolve during early and late carcinogenesis ...
Bo Zhu, Muhammad Aminu, Pingjun Chen, Jian‐Rong Li, Chuanpeng Dong, Chenyang Li, Yanhua Tian, Shao‐Wei Lu, Hong Chen, Chenxi Ma, Xin Hu, Jie Ye, Andrew Y. Liu, Beibei Huang, Frank R. Rojas, Parra Cuentas. Edwin Roger, Ou Shi, Monique B. Nilsson, Alissa Poteete, Khaja B. Khan, Wei Lu, Luisa M. Solis Soto, Junya Fujimoto, Cara Haymaker, Ignacio I. Wistuba, Zhubo Wei, Linghua Wang, Don L. Gibbons, Ken Chen, Alexandre Reuben, Jason M. Schenkel, John V. Heymach, Chao Cheng, Jia Wu, Jianjun Zhang   +34 more
wiley   +1 more source

Consensus Genotyper for Exome Sequencing (CGES): improving the quality of exome variant genotypes [PDF]

Bioinformatics, 2014
Abstract Motivation : The development of cost-effective next-generation sequencing methods has spurred the development of high-throughput bioinformatics tools for detection of sequence variation. With many disparate variant-calling algorithms available, investigators must ask, ‘Which method is best for my data?’ Machine learning research
Vassily, Trubetskoy, Alex, Rodriguez, Uptal, Dave, Nicholas, Campbell, Emily L, Crawford, Edwin H, Cook, James S, Sutcliffe, Ian, Foster, Ravi, Madduri, Nancy J, Cox, Lea K, Davis   +10 more
openaire   +2 more sources

Decoding the Integrated Stress Response of Pancreatic Cancer: Identifying a Serine‐dependent Tumor Subset Under Metabolic Relationships With CAFs.

Advanced Science, EarlyView.
Researchers identified a pancreatic cancer subset with low global protein synthesis but heightened translation of stress‐response genes like ATF4, rendering cells resistant to chemotherapy and apoptosis. These tumors depend on serine and cysteine from surrounding cancer‐associated fibroblasts (CAFs), which shift to produce serine by curbing collagen ...
Sauyeun Shin, Mehdi Liauzun, Jacobo Solorzano, Morgane Le Bras, Christine Jean, Benjamin Fourneaux, Margaux Dore, Lea Fevrier, Ismahane Belhabib, Alexia Brunel, Cindy Neuzillet, Marion Larroque, Carine Joffre, Stephane Rocchi, Nicolas Fraunhoffer, Aurelie Perraud, Muriel Mathonnet, Vera Pancaldi, Laetitia Linares, Juan Iovanna, Nelson Dusetti, Ola Larsson, Remy Nicolle, Stephane Pyronnet, Corinne Bousquet, Yvan Martineau   +25 more
wiley   +1 more source

His‐MMDM: Multi‐Domain and Multi‐Omics Translation of Histopathological Images with Diffusion Models

Advanced Science, EarlyView.
His‐MMDM is a diffusion model‐based framework for scalable multi‐domain and multi‐omics translation of histopathological images, enabling tasks from virtual staining, cross‐tumor knowledge transfer, and omics‐guided image editing. ABSTRACT Generative AI (GenAI) has advanced computational pathology through various image translation models.
Zhongxiao Li, Tianqi Su, Bin Zhang, Wenkai Han, Sibin Zhang, Guiyin Sun, Yuwei Cong, Xin Chen, Jiping Qi, Yujie Wang, Shiguang Zhao, Hongxue Meng, Peng Liang, Xin Gao   +13 more
wiley   +1 more source

Exome Sequencing in Clinical Hepatology

Hepatology, 2019
The clinical relevance of the Human Genome Project and next‐generation sequencing technology was demonstrated for the first time in 2009, when whole‐exome sequencing (WES) provided the definitive diagnosis of congenital chloride diarrhea in an infant with presumed renal salt‐wasting disease. Over the past decade, numerous studies have shown the utility
Sílvia, Vilarinho, Pramod K, Mistry
openaire   +3 more sources

Combination Immunotherapy as a Promising Strategy to Overcome Immunotherapy Resistance: From Emergence to Next‐Generation Approaches

Advanced Science, EarlyView.
This review examines emerging combination immunotherapy strategies tailored to distinct tumor microenvironments and highlights next‐generation biomarkers that guide response prediction and treatment personalization. It integrates lessons from unsuccessful trials, addresses toxicity challenges, and outlines approaches for early biomarker discovery and ...
Asmita Pandey, Sudhir Kumar Rai, Li Ma, Lauren Higa, Vedbar Khadka, Hua Yang, Youping Deng   +6 more
wiley   +1 more source

The Importance of Prenatal Whole-Exome Sequencing Testing in the Romanian Population

Journal of Mind and Medical Sciences
One major cause of prenatal mortality and morbidity is congenital abnormalities. Knowing the prevalence and etiology of congenital malformations is essential for analyzing trends and improving neonatal care.
Ileana-Delia Săbău, Laurentiu-Camil Bohîltea, Viorica Elena Rădoi, Anca Mirela Bardan, Ovidiu Virgil Maioru, Mihaela Țurcan, Viorel Aurel Suciu-Lazar, Iuliana Ceausu   +7 more
doaj   +1 more source

Role of Segregation for Variant Discovery in Multiplex Families Ascertained by Probands With Left Sided Cardiovascular Malformations

Frontiers in Genetics, 2019
Cardiovascular malformations (CVM) are common birth defects (incidence of 2–5/100 live births). Although a genetic basis is established, in most cases the cause remains unknown.
Lisa J. Martin, Lisa J. Martin, Valentina Pilipenko, D. Woodrow Benson   +3 more
doaj   +1 more source

Comparison of TCGA and GENIE genomic datasets for the detection of clinically actionable alterations in breast cancer. [PDF]

, 2019
Whole exome sequencing (WES), targeted gene panel sequencing and single nucleotide polymorphism (SNP) arrays are increasingly used for the identification of actionable alterations that are critical to cancer care.
Carpten, John D, Kaur, Pushpinder, Lang, Julie E, Porras, Tania B, Ring, Alexander   +4 more
core   +3 more sources