VAReporter: variant reporter for cancer research of massive parallel sequencing

by Po-Jung Huang, Chi-Ching Lee, Ling-Ya Chiu, Kuo-Yang Huang, Yuan-Ming Yeh, Chia-Yu Yang, Cheng-Hsun Chiu, Petrus Tang
Published 2018-05-01

Investigating the utility of exome sequencing for kidney disease

by Groopman, Emily
Published 2019

Disentangling mutation and selection in human genetic variation: promises and pitfalls

by Agarwal, Ipsita
Published 2021

Exome-based investigation of the genetic basis of human pigmentary glaucoma

by Carly van der Heide, Wes Goar, Kacie J. Meyer, Wallace L. M. Alward, Erin A. Boese, Nathan C. Sears, Ben R. Roos, Young H. Kwon, Adam P. DeLuca, Owen M. Siggs, Claudia Gonzaga-Jauregui, Val C. Sheffield, Kai Wang, Edwin M. Stone, Robert F. Mullins, Michael G. Anderson, Bao Jian Fan, Robert Ritch, Jamie E. Craig, Janey L. Wiggs, Todd E. Scheetz, John H. Fingert
Published 2021-06-01

Apport du séquençage d’exomes constitutionnels dans l’identification de nouveaux gènes de prédisposition aux cancers, sarcomes et mélanomes pédiatriques.

by Jouenne, Fanélie
Published 2017

GENETIC ANALYSIS OF FAMILIES HAVING AUTOSOMAL RECESSIVE INTELLECTUAL DISABILITY

by Jamshed Khan, Muhammad Junaid, Shahab Uddin, Khalida Moeed, Usman Ullah, Shehla Aman
Published 2019-06-01

Maladies rares et "Big Data" : solutions bioinformatiques vers une analyse guidée par les connaissances : applications aux ciliopathies

by Chennen, Kirsley
Published 2016

Identification et validation fonctionnelle de nouveaux gènes impliqués dans les myopathies

by Schartner, Vanessa
Published 2017

Genetic alterations of the metastatic lesions in ovarian carcinoma

by Malek, Joël
Published 2011

When moments matter: Finding answers with rapid exome sequencing

by Zöe Powis, Kelly D. Farwell Hagman, Kirsten Blanco, Margaret Au, John M. Graham, Kathryn Singh, Natalie Gallant, Linda M. Randolph, Meghan Towne, Jesse Hunter, Deepali N. Shinde, Erika Palmaer, Brian Schoenfeld, Sha Tang
Published 2020-02-01

Utilizing high-throughput genomics methodologies to explore transcritomes and exomes

by Hong, Xiaojing
Published 2013

Editorial: The Post-Exome Era

by Mina Ohadi
Published 2016-03-01

From Genomes to GENE-omes: Exome Sequencing Concept and Applications in Crop Improvement

by Parampreet Kaur, Kishor Gaikwad
Published 2017-12-01

Use of high-throughput targeted exome sequencing in genetic diagnosis of Chinese family with congenital cataract

by Ming-Fu Ma, Lian-Bing Li, Yun-Qi Pei, Zhi Cheng
Published 2016-05-01

The Role and Challenges of Exome Sequencing in Studies of Human Diseases

by Zuoheng eWang, Xiangtao eLiu, Xiangtao eLiu, Bao-Zhu eYang, Joel eGelernter, Joel eGelernter
Published 2013-08-01

Parental understanding of whole exome sequencing: A comparison of perceived and actual understanding.

by Tolusso, Leandra K.
Published 2016

Novel common and rare genetic determinants of paraoxonase activity: FTO, SERPINA12, and ITGAL[S]

by Daniel S. Kim, Amber A. Burt, David R. Crosslin, Peggy D. Robertson, Jane E. Ranchalis, Edward J. Boyko, Deborah A. Nickerson, Clement E. Furlong, Gail P. Jarvik
Published 2013-02-01

Identification of PI3K-AKT signaling as the dominant altered pathway in intestinal type ampullary cancers through whole-exome sequencing

by Niraj Kumari, Rajneesh K. Singh, Shravan K. Mishra, Narendra Krishnani, Samir Mohindra, Raghvendra L.
Published 2021-05-01

Exome-first Approach Identified Novel Homozygous Dedicator of Cytokinesis 8 (DOCK8) Mutations in Three Unrelated Iranian Pedigrees Suspected with Hyper-IgE Syndrome

by Ali Aghebati-Maleki, Tina Shahani, Tooba Momen, Soheila Alyasin, Majid Changi-Ashtiani, Alireza Biglari, Mohammad Shahrooei, Asiyeh Sadat Javanian, Suzan Amini, Xavier Bossuyt, Hassan Rokni-Zadeh
Published 2020-04-01

A novel age-informed approach for genetic association analysis in Alzheimer’s disease

by Yann Le Guen, Michael E. Belloy, Valerio Napolioni, Sarah J. Eger, Gabriel Kennedy, Ran Tao, Zihuai He, Michael D. Greicius, for the Alzheimer’s Disease Neuroimaging Initiative
Published 2021-04-01