Results 81 to 90 of about 73,831 (171)

Enhanced Exome Sequencing Improves the Genetic Diagnosis of Deafblindness. [PDF]

Genes (Basel)
Cifuentes GA, Diñeiro M, Huete AR, Capín R, Santiago A, Vargas AAR, Carrero D, Biscay J, López Martínez E, Aguiar B, Urbaniak M, Fernández-Vega B, Costales M, González-Aguado R, Cabanillas R, Cadiñanos J.   +15 more
europepmc   +1 more source

Augmenting Diagnostic Yield From Genomic Sequencing. [PDF]

Neurol Genet
Wojcik MH, Ganesh V.
europepmc   +1 more source

Portable pipeline for whole exome and genome sequencing

, 2019
T. A. Isaev, Andrey Kokorev, Joel B. Krier, Patrick Magee, Heather Ward, Arezou A. Ghazani, Michael Bouzinier   +6 more
openalex   +1 more source

Precise exome analysis of blastocyst biopsy scale samples using primary template-directed amplification. [PDF]

BMC Genomics
Samitova A, Belova V, Vasiliadis I, Repinskaia Z, Gorodnicheva T, Romanov E, Pogosyan M, Gaysin E, Nazarenko T, Rebrikov D, Korostin D.   +10 more
europepmc   +1 more source

Data from: Highly efficient and comprehensive identification of ethyl methanesulfonate-induced mutations in Nicotiana tabacum L. by whole-genome and whole-exome sequencing

, 2021
Hisashi Udagawa, Hiroyuki Ichida, Takanori Takeuchi, Tomoko Abe, Yoshimitsu Takakura   +4 more
openalex   +1 more source

Opportunities and challenges of whole-genome and -exome sequencing [PDF]

, 2017
Britt‐Sabina Petersen, Broder Fredrich, Marc P. Hoeppner, David Ellinghaus, André Franke   +4 more
openalex   +1 more source

Clinical and genetic diagnostic challenges in presumed hereditary ataxia. [PDF]

J Neurol
Faust H, Duffek P, Drukewitz S, Gburek-Augustat J, Baum P, Bergner CC, Syrbe S, Schröter J, Jamra RA, Popp D.   +9 more
europepmc   +1 more source

Progress, clinical application and challenges of non-invasive prenatal testing for monogenic diseases. [PDF]

Front Pediatr
Wang C, Hou D, Wang G, Wu X, Zhou Z, Yang L, Liu Y, Wang X.   +7 more
europepmc   +1 more source

Whole genome sequencing (WGS), whole exome sequencing (WES) and clinical exome sequencing (CES) in patient care [PDF]

, 2014
Hanns‐Georg Klein, Peter Bauer, Tina Hambuch   +2 more
openalex   +1 more source

Differences in tumor mutational burden assessment: a national ring trial. [PDF]

Acta Oncol
Federspiel Secher C, Westmose Yde C, Elmedal Laursen B, Høgdall E, Sylvain Thomsen H, Svenstrup Poulsen T, Sønderkær M, Kringelbach T, Malik Aagaard Jørgensen M, Frydendahl Sick Olsen R, Elaine Sørensen A, Baudet C, Gíslason MH, Knudsen M, Buhl IK.   +14 more
europepmc   +1 more source