Results 61 to 70 of about 73,831 (171)

Genome sequencing is critical for forecasting outcomes following congenital cardiac surgery

Nature Communications
While exome and whole genome sequencing have transformed medicine by elucidating the genetic underpinnings of both rare and common complex disorders, its utility to predict clinical outcomes remains understudied. Here, we use artificial intelligence (AI)
W. Scott Watkins, Edgar J. Hernandez, Thomas A. Miller, Nathan R. Blue, Raquel Mae Zimmerman, Eric R. Griffiths, Erwin Frise, Daniel Bernstein, Marko T. Boskovski, Martina Brueckner, Wendy K. Chung, J. William Gaynor, Bruce D. Gelb, Elizabeth Goldmuntz, Peter J. Gruber, Jane W. Newburger, Amy E. Roberts, Sarah U. Morton, John E. Mayer, Christine E. Seidman, Jonathan G. Seidman, Yufeng Shen, Michael Wagner, H. Joseph Yost, Mark Yandell, Martin Tristani-Firouzi   +25 more
doaj   +1 more source

Congenital Orbital Fibrosis: Molecular Genetic Analysis by Whole-Exome and Mitochondrial Genome Sequencing [PDF]

, 2017
JaeSang Ko, Hyun Joo Lee, Jin‐Sung Lee, Jin Sook Yoon   +3 more
openalex   +1 more source

Identification of genetic variants in a pedigree associated with epilepsy by using whole exome sequencing and whole genome sequencing [PDF]

, 2021
Qinqin Zhang, Zihua Wang, Junshi Zhang, Junnan Guo, Xuhong Lin, Lei An   +5 more
openalex   +1 more source

The diagnostic yield of intellectual disability: Combined whole genome low-coverage sequencing and medical exome sequencing [PDF]

, 2019
Jun Wang, Yan Wang, Liwen Wang, Wangyang Chen   +3 more
openalex   +1 more source

Organizational Aspects of the Implementation and Use of Whole Genome Sequencing and Whole Exome Sequencing in the Pediatric Population in Italy: Results of a Survey [PDF]

, 2023
Mario Cesare Nurchis, Gian Marco Raspolini, Aurora Heidar Alizadeh, Gerardo Altamura, Francesca Clementina Radio, Marco Tartaglia, Bruno Dallapiccola, Gianfranco Damiani   +7 more
openalex   +1 more source

The Genomic Autopsy: using whole exome and whole genome sequencing to solve complex fetal and neonatal presentations [PDF]

, 2017

openalex   +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 practical method to detect SNVs and indels from whole genome and exome sequencing data [PDF]

, 2013
Daichi Shigemizu, Akihiro Fujimoto, Shintaro Akiyama, Tetsuo Abe, Kaoru Nakano, Keith A. Boroevich, Yujiro Yamamoto, Mayuko Furuta, Michiaki Kubo, Hidewaki Nakagawa, Tatsuhiko Tsunoda   +10 more
openalex   +1 more source

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations

Annals of Clinical and Translational Neurology
Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood.
Fei Gao, Katherine R Schon, Jana Vandrovcova, Özlem Yayıcı Köken, Sharika Raga, Kireshnee Naidu, Maryke Schoonen, Nimita Rani, Pedro Tomaselli, Dipti Baskar, Musambo Kapapa, Ipek Polat, Lindsay A Wilson, Kumarasamy Thangaraj, Uluç Yiş, Bevinahalli N Nandeesh, David Bearden, Michelle Kvalsund, Franclo Henning, Seena Vengalil, Atchayaram Nalini, Claudia F. R. Sobreira, Wilson Marques, Haluk Topoloğlu, Michael G Hanna, Sireesha Yareeda, Venugopalan Y Vishnu, Francois H van derWesthuizen, Izelle Smuts, Surita Meldau, Jo Wilmshurst, Büşranur Çavdarlı, Jeannine Heckmann, Patrick F Chinnery, Rita Horvath   +34 more
doaj   +1 more source

Additional file 4: of Interpreting whole genome and exome sequencing data of individual gastric cancer samples

, 2017
Daniela Esser, Niklas Holze, Jochen Haag, Stefan Schreiber, Sandra Krüger, Viktoria S. Warneke, Philip Rosenstiel, Christoph Röcken   +7 more
openalex   +2 more sources