Results 81 to 90 of about 174,703 (205)

Whole Exome Sequencing of Chronic Myeloid Leukemia Patients

Iranian Journal of Public Health, 2016
Background: Previous studies have shown that leukemogenic chromosomal translocations, including fusions between Break point Cluster Region (BCR) and Abelson (ABL) are present in the peripheral blood of healthy individuals.
Shaghayegh SABRI, Manouchehr KEYHANI, Mohammad Taghi AKBARI   +2 more
doaj  

Challenges in identifying cancer genes by analysis of exome sequencing data. [PDF]

, 2016
Massively parallel sequencing has permitted an unprecedented examination of the cancer exome, leading to predictions that all genes important to cancer will soon be identified by genetic analysis of tumours.
Bandyopadhyay, Sourav, Carter, Hannah, Friend, Stephen, Hofree, Matan, Ideker, Trey, Kreisberg, Jason F, Mischel, Paul S   +6 more
core   +1 more source

Genomic Profiling of Childhood Tumor Patient-Derived Xenograft Models to Enable Rational Clinical Trial Design. [PDF]

, 2019
Accelerating cures for children with cancer remains an immediate challenge as a result of extensive oncogenic heterogeneity between and within histologies, distinct molecular mechanisms evolving between diagnosis and relapsed disease, and limited ...
Baxter, Patricia, Bendak, Katerina, Berko, Esther R, Bowen, Jay, Braun, Frank K, Bryan, Anthony C, Böhm, Julia W, Cardenas, Maria F, Chen, Yidong, Coppens, Sara E, Cross, Katherine L, Diskin, Sharon J, Doddapaneni, HarshaVardhan, Du, Yunchen, Egolf, Laura E, Evans, Kathryn, Farrel, Alvin, Gaonkar, Krutika S, Gastier-Foster, Julie M, Gatto, Gregory J, Gorlick, Richard, Greene, Casey S, Haber, Michelle, Hart, Lori S, Haussler, David, Houghton, Peter J, Jayaseelan, Joy, Kalletla, Karthik, Kendsersky, Nathan M, Kolb, E Anders, Krytska, Kateryna, Kurmashev, Dias, Kurmasheva, Raushan T, Leraas, Kristen M, Li, Xiao-Nan, Lindsay, Holly B, Lock, Richard B, Lopez, Gonzalo, Maris, John M, Marshall, Glenn M, Mayoh, Chelsea, McCalmont, Hannah, McCoy, Kristyn, Modi, Apexa, Momin, Zeineen, Morton, Christopher, Mosse, Yael P, Nance, Jonas, Patel, Khushbu, Pfeil, Jacob, Qi, Lin, Raman, Pichai, Rathi, Komal S, Reynolds, C Patrick, Rokita, Jo Lynne, Sacks, Gregory I, Sanchez, Yolanda, Shu, Jack, Smith, Malcolm A, Tyrrell, Vanessa, Upton, Kristen A, Vaksman, Zalman, Vaske, Olena Morozova, Way, Gregory P, Wheeler, David A, Zhang, Huiyuan, Zhang, Wendong, Zhao, Sibo, Zheng, Siyuan   +68 more
core  

ISOWN: accurate somatic mutation identification in the absence of normal tissue controls. [PDF]

, 2017
BackgroundA key step in cancer genome analysis is the identification of somatic mutations in the tumor. This is typically done by comparing the genome of the tumor to the reference genome sequence derived from a normal tissue taken from the same donor ...
Bartlett, John MS, Kalatskaya, Irina, McPherson, John D, Spears, Melanie, Stein, Lincoln, Trinh, Quang M   +5 more
core   +1 more source

Whole‐Exome Sequencing Study of Extreme Phenotypes of NAFLD

Hepatology Communications, 2018
Nonalcoholic fatty liver disease (NAFLD) is a heterogeneous disease with highly variable outcomes. Patients with simple steatosis typically experience a benign course, whereas those with more advanced liver injury, nonalcoholic steatohepatitis (NASH ...
Sarah E. Kleinstein, Matthew Rein, Manal F. Abdelmalek, Cynthia D. Guy, David B. Goldstein, Anna Mae Diehl, Cynthia A. Moylan   +6 more
doaj   +1 more source

Congenital dyserythropoiesis anemia type Ia with a novel CDAN1 mutation diagnosed by whole exome sequencing

Molecular Genetics & Genomic Medicine, 2020
Background Congenital dyserythropoiesis anemia type Ia (OMIM:224120), is a rare hereditary anemia. The diagnosis is difficult to make and usually delayed in part due to its rarity and nonspecific clinical manifestations.
Pei‐Chin Lin, Chao‐Neng Cheng, Hsi‐Yuan Huang, Yu‐Hsin Tseng, Ya‐Sian Chang, Chien‐Yu Lin, Jan‐Gowth Chang   +6 more
doaj   +1 more source

Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features. [PDF]

, 2015
BackgroundCohen Syndrome (COH1) is a rare autosomal recessive disorder, principally identified by ocular, neural and muscular deficits. We identified three large consanguineous Pakistani families with intellectual disability and in some cases with ...
Ali, Ghazanfar, Ali, Nadir, Ambalavanan, Amirthagowri, Amin-ud-Din, Muhammad, Ansar, Muhammad, Ayaz, Muhammad, Ayub, Muhammad, Brohi, Muhammad Qasim, Caron, Chantal, Christian, Mehtab, Egger, Gerald, Fennell, Alanna, Forgeot d'Arc, Baudouin, Johnson, Amelie, Khan, Falak Sher, Laurent, Sandra, Leblond, Claire S, Mahmood, Huda, Mottron, Laurent, Nanjiani, Zohair, Rafiq, Muhammad Arshad, Rasheed, Saima, Saqib, Muhammad Arif Nadeem, Shaheen, Naseema, So, Joyce, Spiegelman, Dan, Vincent, Akshita K, Vincent, John B, Waqas, Ahmed, Xiong, Lan   +29 more
core   +2 more sources

Whole Exome Sequencing [PDF]

Obstetrics and Gynecology Clinics of North America, 2018
Angie C. Jelin, Neeta Vora
openaire   +1 more source

Evaluation of potential of targeted sequencing through mutational signature simulation.

PLoS ONE
BackgroundTargeted sequencing is critical in cancer diagnosis, treatment selection, and monitoring. However, the effectiveness of these methods for reflecting whole-exome sequencing (WES)-level mutational signatures remains unclear.
Keisuke Kodama, Yiwei Ling, Hiroshi Ichikawa, Toshifumi Wakai, Shujiro Okuda   +4 more
doaj   +1 more source

A case report and genetic characterization of a massive acinic cell carcinoma of the parotid with delayed distant metastases. [PDF]

, 2013
We describe the presentation, management, and clinical outcome of a massive acinic cell carcinoma of the parotid gland. The primary tumor and blood underwent exome sequencing which revealed deletions in CDKN2A as well as PPP1R13B, which induces p53.
Agrawal, Sumit K, Barrett, John W, Boutros, Paul C, Chan-Seng-Yue, Michelle, Dowthwaite, Samuel A, Fung, Kevin, Harding, Nicholas J, Koropatnick, James, Lambin, Philippe, Macneil, S Danielle, Mymryk, Joe S, Nichols, Anthony C, Palma, David A, Starmans, Maud HW, Waggott, Daryl, Wehrli, Bret, Winquist, Eric, Yoo, John   +17 more
core   +3 more sources