Results 91 to 100 of about 5,590,230 (287)

Quantifying single nucleotide variant detection sensitivity in exome sequencing [PDF]

, 2013
BACKGROUND: The targeted capture and sequencing of genomic regions has rapidlydemonstrated its utility in genetic studies. Inherent in this technology isconsiderable heterogeneity of target coverage and this is expected tosystematically impact our ...
Taylor, Martin S.; id_orcid, Andrew P Jackson, Alison M Meynert, Jackson, Andrew, Bicknell, Louise, Martin S Taylor, Matthew E Hurles, Meynert, Alison, Louise S Bicknell   +8 more
core   +1 more source

Somatostatin receptor 4 (SSTR4) is a tumor suppressor in cutaneous and head & neck squamous cell carcinomas

Molecular Oncology, EarlyView.
This study identifies somatostatin receptor 4 (Sstr4) as a critical tumor suppressor against skin and head/neck cancers (HNSCC, cSCC, and BCC). The loss of Sstr4 removes a check on cell growth, causing hyperactivation of the MAPK‐ERK signaling pathway (↑).
Ali Taqvi, Tuan Khang Huynh, Adway Kadam, Zahra Kardan, Yue Yan, Amina Jamal Laham, Sampath Kumar Loganathan   +6 more
wiley   +1 more source

A comparison of short-read, HiFi long-read, and hybrid strategies for genome-resolved metagenomics

Microbiology Spectrum
Shotgun metagenomics enables the reconstruction of complex microbial communities at a high level of detail. Such an approach can be conducted using both short-read and long-read sequencing data, as well as a combination of both.
Raphael Eisenhofer, Joseph Nesme, Luisa Santos-Bay, Adam Koziol, Søren Johannes Sørensen, Antton Alberdi, Ostaizka Aizpurua   +6 more
doaj   +1 more source

Extracellular vesicle lipidomics liquid biopsy reveals systemic and tumor microenvironment metabolic reprogramming in ovarian cancer

Molecular Oncology, EarlyView.
Extracellular vesicle (EV) lipidomic profiling of plasma and ascites from patients with high‐grade serous ovarian cancer and of ovarian cancer cell lines reveals enrichment of triglycerides (TGs), diacylglycerols (DGs), phosphatidylcholine (PCs), sphingomyelins (SMs), reflecting tumor metabolic reprogramming.
Shikha Rani, Dominic Guanzon, Andrew Lai, Katherin Scholz‐Romero, Sarah Reed, Edita Ritmejeryte, Rohan Lourie, Naven Chetty, Kaltin Ferguson, Carlos Salomon   +9 more
wiley   +1 more source

Long-read sequencing reveals novel mitochondrial genome variants undetected by short-read sequencing in Korean population

While long-read sequencing technologies (e.g., PacBio Revio, ONT) have revolutionized high-quality genome assembly for the human pangenome, mitochondrial genome (mtDNA) analysis still largely relies on short-read and Sanger sequencing.
Bong-Jo Kim, Han Jun Jin, Young Jin Kim, Sung Min Kim, Hyung Jun Kim, Kyungheon Yoon   +5 more
core   +1 more source

Metabarcoding with Illumina and Oxford Nanopore Technologies provides complementary insights into tree seed mycobiota

Environmental Microbiome
Background Culturing of fungi is labor-intensive and reveals limited diversity, while high-throughput sequencing of barcodes (i.e., metabarcoding) enables a simultaneous detection of fungi from multiple environmental samples.
Jana Mittelstrass, Renate Heinzelmann, René Eschen, Martin Hartmann, Quirin Kupper, Salome Schneider, Simone Prospero, Iva Franić   +7 more
doaj   +1 more source

Using short read sequencing to characterise balanced reciprocal translocations in pigs

BMC Genomics, 2020
Background A balanced constitutional reciprocal translocation (RT) is a mutual exchange of terminal segments of two non-homologous chromosomes without any loss or gain of DNA in germline cells.
Aniek C. Bouwman, Martijn F. L. Derks, Marleen L. W. J. Broekhuijse, Barbara Harlizius, Roel F. Veerkamp   +4 more
doaj   +1 more source

Unique circulating miRNAome signatures captured with distinct molecular states in Lynch syndrome and sporadic colorectal cancer

Molecular Oncology, EarlyView.
Circulating microRNA profiles distinguish nonmalignant Lynch syndrome from cancer‐associated Lynch syndrome, sporadic colorectal cancer, and healthy controls. Age‐stratified analysis reveals disease‐specific regulatory states, and a six‐miRNA panel shows concordant separation in an independent colorectal tissue cohort.
Ramadhani Salum Chambuso, Md Shohel Ul Islam, Rosa M Xicola, Raj Ramesar, Xavier Llor, Sinclair Steele   +5 more
wiley   +1 more source

SPHINX31 acts as a SRPK1 inhibitor targeting the ATR/DNA‐PKcs/CHK1 replicative checkpoint to inhibit cell growth in non‐small cell lung cancer

Molecular Oncology, EarlyView.
The kinase SRPK1 directly interacts with the protein TOPBP1 and regulates the pre‐mRNA splicing of WIZ thereby contributing to the activation of the ATR/CHK1 replicative checkpoint in response to replicative stress. This allows cancer cells' genomic stability and survival.
Amani Shreim, Aurelie Genoux, Nadiia Zubchuk, Haoyang Zheng, Perla Salameh, Theo Ziegelmeyer, Fabien Dalonneau, Margot Rouchette, Christiane Oddou, Simona Miron, Helene Polveche, Adiilah Mamode Cassim, Carmen Garrido, Eleni Nikolakaki, Didier Auboeuf, Tao Jia, Sophie Zinn‐Justin, Beatrice Eymin   +17 more
wiley   +1 more source

Characterization of therapeutic antibodies targeting lymphatic and vascular resistance factor for the treatment of hypervascularized and highly metastatic cancers

Molecular Oncology, EarlyView.
LVRF (lymphatic and vascular resistance factor) is a VEGFA splice variant upregulated in response to anti‐angiogenic therapy that fosters tumor adaptation through enhanced vascularization, lymphangiogenesis, and metastatic dissemination. Targeting LVRF with fully human neutralizing antibodies disrupts these processes and limits resistant tumor growth ...
Marion David, Arthur Karaulic, Audrey Bennetot, Clémence Fournier, Quentin Odet, Arthur Gouraud, Isabelle Bourget, Cédric Gaggioli, Sandy Giuliano, Frédéric Luciano, Olivier Léger, Zaki Sellam, Gilles Pagès   +12 more
wiley   +1 more source