Results 71 to 80 of about 73,831 (171)

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

Meeting summary: ethical aspects of whole exome and whole genome sequencing studies (WES/WGS) in rare diseases, Tel Aviv, Israel, January 2013 [PDF]

, 2013
Luba Farberov, Avital Gilam, Ofer Isakov, Noam Shomron   +3 more
openalex   +1 more source

Genome Analysis Using Whole-Exome Sequencing of Non-Syndromic Cleft Lip and/or Palate from Malagasy Trios Identifies Variants Associated with Cilium-Related Pathways and Asian Genetic Ancestry [PDF]

, 2023
Zarko Manojlovic, Allyn Auslander, Yuxin Jin, Ryan J. Schmidt, Yili Xu, Sharon B. Chang, Ruocen Song, Sue A. Ingles, Alana Nunes, Kevin C. Vavra, Devin Feigelson, Sylvia R Rakotoarison, Melissa DiBona, Kathy Magee, Operation Smile, Anjaramamy Ramamonjisoa, William P. Magee   +16 more
openalex   +1 more source

Whole-genome sequencing, as a powerful diagnostic tool in hearing loss, reveals novel variants in PTPRQ missed by whole-exome sequencing [PDF]

Daniel Bengl, Asuman Koparır, Wahyu Eka Prastyo, Christian W. Remmele, Marcus Dittrich, Sophie Flandin, Wafaa Shehata-Dieler, Clemens Grimm, Thomas Haaf, Michaela A. H. Hofrichter   +9 more
openalex   +1 more source

The impact of reporting incidental findings from exome and whole-genome sequencing: predicted frequencies based on modeling [PDF]

, 2014
Lucy-Enid Ding, Leslie Burnett, Douglas Chesher   +2 more
openalex   +1 more source

Accelerated somatic mutation calling for whole-genome and whole-exome sequencing data from heterogenous tumor samples [PDF]

, 2023
Shuangxi Ji, Tong Zhu, Ankit Sethia, Wenyi Wang   +3 more
openalex   +1 more source

Whole-Genome Linkage Scan Combined With Exome Sequencing Identifies Novel Candidate Genes for Carotid Intima-Media Thickness

, 2018
Dina Vojinović, Maryam Kavousi, Mohsen Ghanbari, Rutger W. W. Brouwer, Jeroen van Rooij, Mirjam C. G. N. van den Hout, Robert Kraaij, Wilfred F. J. van IJcken, André G. Uitterlinden, Cornelia M. van Duijn, Najaf Amin   +10 more
openalex   +1 more source

Ethical and legal implications of whole genome and whole exome sequencing in African populations [PDF]

, 2013
Galen E.B. Wright, Pieter Koornhof, Adebowale Adeyemo, Nicki Tiffin   +3 more
openalex   +1 more source

Comparison of Variant Calls from Whole Genome and Whole Exome Sequencing Data Using Matched Samples

, 2018
Niclas Björn, Sailendra Pradhananga, Benjamín Sigurgeirsson, John G. Lundberg, Henrik Gréen, Pelin Sahlén   +5 more
openalex   +2 more sources

Identification and prioritisation of causal variants in human genetic disorders from exome or whole genome sequencing data [PDF]

, 2017
Nagarajan Paramasivam, Martin Granzow, Christina Evers, Katrin Hinderhofer, Stefan Wiemann, Claus R. Bartram, Roland Eils, Matthias Schlesner   +7 more
openalex   +1 more source