Results 211 to 220 of about 157,645 (329)

Benchmarking of variant calling software for whole-exome sequencing using gold standard datasets. [PDF]

Sci Rep
Wong M, Liew B, Hum M, Lee NY, Lee ASG.
europepmc   +1 more source

Tumor diversity and evolution revealed through RADseq [PDF]

, 2017
Altshuler, Beal, Begum, Blaxter, Bos, Broaddus, Burdett, Butte, Caccamo, Cai, Caldas, Choy, Cresko, Cresko, Cuppen, da Silveira, De, DePristo, Durbin, Felsenstein, Gatenby, Getz, Goldberg, Greaves, Hoekstra, Hohenlohe, Hynes, Iacobuzio-Donahue, Johnson, Johnson, Katzen, Kawakami, Kernytsky, Kramer, Leder, Look, Lupski, Magi, Maley, Martincorena, Mesirov, Miller, Mullins, Nowak, Nowak, Nowak, Nowell, Parmigiani, Pawlik, Polyak, Polyak, Postlethwait, Pyeritz, Quake, Raible, Scholl, Schultz, Somers, Swanton, Townsend, Vogelstein, Weinberg, Weir, Westerfield, Yaeger, Zon, Zon   +66 more
core   +2 more sources

Phenotype and surgical management of drug‐resistant epilepsy in patients with COL4A1 and COL4A2 variants

Epilepsia Open, EarlyView.
Abstract Objective To summarize the clinical features of collagen type IV alpha 1/2 chain (COL4A)1/2‐related epilepsy and the seizure outcomes of patients undergoing epilepsy surgery. Methods We retrospectively analyzed the clinical, electroencephalography, and neuroimaging data; genetic characteristics; surgical details; and prognosis of 8 patients (4
Jie Shi, Jiuluan Lin, Jianjun Bai, Haixiang Wang, Bingqing Zhang, Qian Feng, Zhaohui Sun, Yiou Liu, Jing He, Xiancheng Song, Siyu Wang, Xiaoyan Liu, Wenjing Zhou   +12 more
wiley   +1 more source

Whole exome sequencing the dog [PDF]

, 2015
Alfoldi, Jessica, Bavegems, Valérie, Bosmans, Tim, Broeckx, Bart, Coopman, Frank, De Keulenaer, Sarah, De Meester, Ellen, Deforce, Dieter, Derrien, Thomas, Gielen, Ingrid, Hitte, Christophe, Lindblad-Toh, Kerstin, Saunders, Jimmy, van Bree, Henri, Van Nieuwerburgh, Filip, Van Ryssen, Bernadette, Verhoeven, Geert   +16 more
core  

Using XHMM Software to Detect Copy Number Variation in Whole‐Exome Sequencing Data [PDF]

, 2014
Menachem Fromer, Shaun Purcell
openalex   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Pathogenic variants identification in primary congenital glaucoma patients using whole exome sequencing. [PDF]

Sci Rep
Ahmad S, Gandapur MS, Jelani M, Muhammad A, Haq IU, Mahsood YJ, Ahmad S, Alonazi WB, Bibi N, Sarwar MT, Khan TA.   +10 more
europepmc   +1 more source

P1.14 Using Whole Exome Sequencing to Identify Genetic Candidates for Carboplatin and Gemcitabine Induced Toxicities

, 2012
Johanna Hasmats, H. Gréen
openalex   +1 more source

Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies

Epilepsia Open, EarlyView.
Abstract Objective Genetic testing is now included in the diagnostic assessment of childhood onset epilepsies. We evaluated the yield of a targeted next generation sequencing (TNGS) panel dedicated to pediatric epilepsies. Methods We tested by TNGS panel 1000 consecutive patients presenting with childhood onset epilepsies and including mainly patients ...
Giulia Barcia, Nicole Chemaly, Stéphanie Gobin‐Limballe, Emma Losito, Mélodie Aubart, Eugénie Sarda, Zahra Assouline, Pauline Plante‐Bordeneuve, Marie Hully, Remi Barrois, Christine Barnerias, Doxa Sareidaki, Delphine Coste Zeitoun, Monika Eisermann, Cécile Fourrage, Sylvain Hanein, Marlène Rio, Nathalie Boddaert, Isabelle Desguerre, Anna Kaminska, Julie Steffann, Rima Nabbout   +21 more
wiley   +1 more source

Whole-Exome Sequencing: Discovering Genetic Causes of Granulomatous Mastitis. [PDF]

Int J Mol Sci
Ozcinar B, Ocak Z, Billur D, Ertugrul B, Timirci-Kahraman O.   +4 more
europepmc   +1 more source