Results 111 to 120 of about 122,453 (313)

Rapid, ultra low coverage copy number profiling of cell-free DNA as a precision oncology screening strategy. [PDF]

, 2017
Current cell-free DNA (cfDNA) next generation sequencing (NGS) precision oncology workflows are typically limited to targeted and/or disease-specific applications.
Alva, Ajjai S, Brockman, Scott, Chinnaiyan, Arul M, Chugh, Rashmi, Feng, Felix Y, Grasso, Catherine S, Gursky, Amy, Haakenson, Christine, Henderson, James, Herman, Kirk, Hovelson, Daniel H, Husain, Hatim, Hussain, Maha H, Kamberov, Emmanuel, Kandarpa, Malathi, Kang, Qing, Krauss, John C, Langmore, John, Liu, Chia-Jen, Lonigro, Robert J, Mills, Ryan E, Morgan, Todd M, Quist, Michael J, Ramnath, Nithya, Robinson, Dan, Smith, David C, Talpaz, Moshe, Tesmer, Tim, Tewari, Muneesh, Tomlins, Scott A, Tuck, Missy, Wang, Yugang   +31 more
core   +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

Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Homologous Recombination Factor With OB‐Fold (HROB) plays a role in homologous recombination and DNA replication, where it enhances the MCM8‐MCM9 helicase complex activity. Recent findings link biallelic germline HROB variants to primary gonadal insufficiency (hypergonadotropic hypogonadism), a phenotype also associated with MCM8/MCM9 ...
Noah C. Helderman, Carli M. Tops, Jelmer Legebeke, Ting Yang, Marcos Díaz Gay, Diantha Terlouw, Lisa E. E. L. O. Lashley, Stefan Aretz, Anna K. Sommer, Mariona Terradas, Laura Valle, Richarda M. de Voer, Ludmil B. Alexandrov, Hans Morreau, Tom van Wezel, Maartje Nielsen   +15 more
wiley   +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 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

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

m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.
Jacob Mohr, Anja Lisbeth Frederiksen, Morten Duno, Anne Pernille Hermann, Trine Maxel Juul, Simone Rask Nielsen   +5 more
wiley   +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

Genome-wide signatures of complex introgression and adaptive evolution in the big cats. [PDF]

, 2017
The great cats of the genus Panthera comprise a recent radiation whose evolutionary history is poorly understood. Their rapid diversification poses challenges to resolving their phylogeny while offering opportunities to investigate the historical ...
Antunes, Agostinho, Assis, Juliana, Azevedo, Fernando CC, Bi, Ke, Brassaloti, Ricardo A, Coutinho, Luiz L, Eizirik, Eduardo, Fernandes, Gabriel, Figueiró, Henrique V, Gabaldón, Toni, Hughes, Graham M, Kantek, Daniel, Komissarov, Aleksey, Li, Gang, Linderoth, Tyler, Loska, Damian, Morato, Ronaldo G, Murphy, William J, Nielsen, Rasmus, Nunes, Adauto LV, O'Brien, Stephen J, Oliveira, Guilherme, Pais, Fabiano, Ramalho, Emiliano, Rodrigues, Maíra R, Santos, Sarah HD, Saragüeta, Patricia, Silveira, Leandro, Teeling, Emma C, Teixeira, Rodrigo HF, Trinca, Cristine S, Trindade, Fernanda J, Villela, Priscilla MS   +32 more
core   +5 more sources

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair, Kevin Carratu, Natalie E. Rintoul, Holly L. Hedrick, William H. Peranteau, Catherine M. Avitabile, Kirsty McWalter, Paul Kruszka, Ian D. Krantz, K. Taylor Wild   +9 more
wiley   +1 more source