Results 51 to 60 of about 73,831 (171)

Fluorouracil modulates the genome of HCT116 colorectal cancer cells as revealed by whole exome sequencing [PDF]

, 2022
Hussein Sabit, Thamer Alshammari, Sarah Ameen Almofty   +2 more
openalex   +1 more source

Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis [PDF]

, 2022
Lisa Ewans, André E. Minoche, Deborah Schofield, Rupendra Shrestha, Clare Puttick, Ying Zhu, Alexander P. Drew, Velimir Gayevskiy, George Elakis, Corrina Walsh, Lesley C. Adès, Alison Colley, Carolyn Ellaway, Carey‐Anne Evans, Mary‐Louise Freckmann, Linda Goodwin, Anna Hackett, Benjamin Kamien, Edwin P. Kirk, Michelle Lipke, David Mowat, Elizabeth E. Palmer, Sulekha Rajagopalan, Anne Ronan, Rani Sachdev, William Stevenson, Anne Turner, Meredith Wilson, Lisa Worgan, Marie‐Christine Morel‐Kopp, Michael Field, Michael F. Buckley, Mark J. Cowley, Marcel E. Dinger, Tony Roscioli   +34 more
openalex   +1 more source

Advantages and Perils of Clinical Whole-Exome and Whole-Genome Sequencing in Cardiomyopathy [PDF]

, 2020
Francesco Mazzarotto, Iacopo Olivotto, Roddy Walsh   +2 more
openalex   +1 more source

Utilization of next-generation sequencing to define the role of heterozygous FOXN1 variants in immunodeficiency

Journal of Allergy and Clinical Immunology: Global
Background: Forkhead box protein N1 (FOXN1) transcription factor plays an essential role in the development of thymic epithelial cells, required for T-cell differentiation, maturation, and function.
Yehonatan Pasternak, MD, Linda Vong, PhD, Daniele Merico, PhD, Laura Abrego Fuentes, MD, Ori Scott, MD, Marina Sham, MD, Meghan Fraser, RN, Abby Watts-Dickens, CGC, Jessica Willett Pachul, RN, MN, Vy H.D. Kim, MD, MScCH, FRCPC, Christian R. Marshall, PhD, Stephen Scherer, PhD, Chaim M. Roifman, CM, MD, FRCPC, FCACB   +12 more
doaj   +1 more source

Interpreting whole genome and exome sequencing data of individual gastric cancer samples

BMC Genomics, 2017
Background Gastric cancer is the fourth most common cancer and the second leading cause of cancer death worldwide. In order to understand the genetic background, we sequenced the whole exome and the whole genome of one microsatellite stable as well as ...
Daniela Esser, Niklas Holze, Jochen Haag, Stefan Schreiber, Sandra Krüger, Viktoria Warneke, Philip Rosenstiel, Christoph Röcken   +7 more
doaj   +1 more source

Comparison of Mendeliome exome capture kits for use in clinical diagnostics

Scientific Reports, 2020
Next generation sequencing has disrupted genetic testing, allowing far more scope in the tests applied. The appropriate sections of the genome to be tested can now be readily selected, from single mutations to whole-genome sequencing.
Reuben J. Pengelly, Daniel Ward, David Hunt, Christopher Mattocks, Sarah Ennis   +4 more
doaj   +1 more source

Technological considerations for genome-guided diagnosis and management of cancer

Genome Medicine, 2016
Technological, methodological, and analytical advances continue to improve the resolution of our view into the cancer genome, even as we discover ways to carry out analyses at greater distances from the primary tumor sites.
Niall J. Lennon, Viktor A. Adalsteinsson, Stacey B. Gabriel   +2 more
doaj   +1 more source

A practical guide to filtering and prioritizing genetic variants

BioTechniques, 2017
Next-generation sequencing (NGS) of whole genomes and exomes is a powerful tool in biomedical research and clinical diagnostics. However, the vast amount of data produced by NGS introduces new challenges and opportunities, many of which require novel ...
Mahjoubeh Jalali Sefid Dashti, Junaid Gamieldien   +1 more
doaj   +1 more source

Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature [PDF]

, 2018
Katharina Schwarze, James Buchanan, Jenny C. Taylor, Sarah Wordsworth   +3 more
openalex   +1 more source

Whole-exome and Whole-genome Sequencing of 1097 Individuals with Type 1 Diabetes Reveals Novel Genes for Diabetic Kidney Disease [PDF]

, 2023
Jani K. Haukka, Anni A. Antikainen, Erkka Valo, Anna Syreeni, Emma H. Dahlström, Bridget M. Lin, Nora Franceschini, Valma Harjutsalo, Per‐Henrik Groop, Niina Sandholm   +9 more
openalex   +1 more source