Results 51 to 60 of about 75,829 (126)

A practical guide to filtering and prioritizing genetic variants

BioTechniques, 2017
Next-generation sequencing (NGS) of whole genomes and exomes is a powerful tool in biomedical research and clinical diagnostics. However, the vast amount of data produced by NGS introduces new challenges and opportunities, many of which require novel ...
Mahjoubeh Jalali Sefid Dashti, Junaid Gamieldien   +1 more
doaj   +1 more source

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

Technological considerations for genome-guided diagnosis and management of cancer

Genome Medicine, 2016
Technological, methodological, and analytical advances continue to improve the resolution of our view into the cancer genome, even as we discover ways to carry out analyses at greater distances from the primary tumor sites.
Niall J. Lennon, Viktor A. Adalsteinsson, Stacey B. Gabriel   +2 more
doaj   +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 cost-effective sequencing method for genetic studies combining high-depth whole exome and low-depth whole genome

npj Genomic Medicine
Whole genome sequencing (WGS) at high-depth (30X) allows the accurate discovery of variants in the coding and non-coding DNA regions and helps elucidate the genetic underpinnings of human health and diseases.
Claude Bhérer, Robert Eveleigh, Katerina Trajanoska, Janick St-Cyr, Antoine Paccard, Praveen Nadukkalam Ravindran, Elizabeth Caron, Nimara Bader Asbah, Peyton McClelland, Clare Wei, Iris Baumgartner, Marc Schindewolf, Yvonne Döring, Danielle Perley, François Lefebvre, Pierre Lepage, Mathieu Bourgey, Guillaume Bourque, Jiannis Ragoussis, Vincent Mooser, Daniel Taliun   +20 more
doaj   +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

MetaSTAARlite: an all-in-one tool for biobank-scale whole-genome sequencing meta-analysis. [PDF]

Nat Comput Sci
Kumarasinghe Y, Williams J, Yuan Y, Wang W, Dias JA, Zhang H, Li Z, Li X.   +7 more
europepmc   +1 more source

Diagnostic efficiency of whole exome sequencing in the search for genetic causes of hereditary diseases in Yugra (West Siberia, Russia). [PDF]

Vavilovskii Zhurnal Genet Selektsii
Donnikov MY, Suchko PA, Morozkina AV, Kolbasin LN, Popova EA, Papanov SI, Koshevaya YS, Danilov LG, Eismont YA, Glotov OS, Kovalenko LV.   +10 more
europepmc   +1 more source

Somatic mutations in endometrial epithelium: biological insights and emerging in vitro models. [PDF]

Mol Hum Reprod
Subramaniam S, Gargett CE, Fitzgerald HC, Montgomery GW, McKinnon B.   +4 more
europepmc   +1 more source

VariantMedium: sensitive and generalizable somatic point mutation calling with 3D DenseNets trained and evaluated on experimental data. [PDF]

Genome Med
Muslu Ö, Bukur T, Riesgo-Ferreiro P, Kher S, Akbarinejad S, Kress L, Gangi Maurici S, Asim MN, Henrich A, Ahmed S, Dengel A, Löwer M, Ibn-Salem J, Sahin U.   +13 more
europepmc   +1 more source