scholarly journals Publisher Correction: Application of full-genome analysis to diagnose rare monogenic disorders

2021 ◽  
Vol 6 (1) ◽  
Author(s):  
Joseph T. Shieh ◽  
Monica Penon-Portmann ◽  
Karen H. Y. Wong ◽  
Michal Levy-Sakin ◽  
Michelle Verghese ◽  
...  
Keyword(s):  
Genome Analysis ◽  
Full Genome ◽  
Monogenic Disorders ◽  
Full Genome Analysis

scholarly journals Application of Full Genome Analysis to Diagnose Rare Monogenic Disorders

2020 ◽  
Author(s):  
Joseph T. Shieh ◽  
Monica Penon-Portmann ◽  
Karen H.Y. Wong ◽  
Michal Levy-Sakin ◽  
Michelle Verghese ◽  
...  
Keyword(s):  
Rare Diseases ◽  
Genome Analysis ◽  
Diagnostic Yield ◽  
Future Application ◽  
Full Genome ◽  
Structural Variants ◽  
Monogenic Disorders ◽  
Genome Maps ◽  
Variant Detection ◽  
Full Genome Analysis

AbstractCurrent genetic tests for rare diseases provide a diagnosis in only a modest proportion of cases. The Full Genome Analysis method, FGA, combines long-range assembly and whole-genome sequencing to detect small variants, structural variants with breakpoint resolution, and phasing. We built a variant prioritization pipeline and tested FGA’s utility for diagnosis of rare diseases in a clinical setting. FGA identified structural variants and small variants with an overall diagnostic yield of 40% (20 of 50 cases) and 35% in exome-negative cases (8 of 23 cases), 4 of these were structural variants. FGA detected and mapped structural variants that are missed by short reads, including non-coding duplication, and phased variants across long distances of more than 180kb. With the prioritization algorithm, longer DNA technologies could replace multiple tests for monogenic disorders and expand the range of variants detected. Our study suggests that genomes produced from technologies like FGA can improve variant detection and provide higher resolution genome maps for future application.

scholarly journals Application of full-genome analysis to diagnose rare monogenic disorders

2021 ◽  
Vol 6 (1) ◽  
Author(s):  
Joseph T. Shieh ◽  
Monica Penon-Portmann ◽  
Karen H. Y. Wong ◽  
Michal Levy-Sakin ◽  
Michelle Verghese ◽  
...  
Keyword(s):  
Rare Diseases ◽  
Genome Analysis ◽  
Diagnostic Yield ◽  
Future Application ◽  
Full Genome ◽  
Structural Variants ◽  
Monogenic Disorders ◽  
Genome Maps ◽  
Variant Detection ◽  
Full Genome Analysis

AbstractCurrent genetic tests for rare diseases provide a diagnosis in only a modest proportion of cases. The Full-Genome Analysis method, FGA, combines long-range assembly and whole-genome sequencing to detect small variants, structural variants with breakpoint resolution, and phasing. We built a variant prioritization pipeline and tested FGA’s utility for diagnosis of rare diseases in a clinical setting. FGA identified structural variants and small variants with an overall diagnostic yield of 40% (20 of 50 cases) and 35% in exome-negative cases (8 of 23 cases), 4 of these were structural variants. FGA detected and mapped structural variants that are missed by short reads, including non-coding duplication, and phased variants across long distances of more than 180 kb. With the prioritization algorithm, longer DNA technologies could replace multiple tests for monogenic disorders and expand the range of variants detected. Our study suggests that genomes produced from technologies like FGA can improve variant detection and provide higher resolution genome maps for future application.

scholarly journals Full-Genome Analysis of Hepatitis C Virus in Japanese and Non-Japanese Patients Coinfected With HIV-1 in Tokyo

2019 ◽  
Vol 80 (3) ◽  
pp. 350-357 ◽  
Author(s):  
Yuki Ishida ◽  
Tsunefusa Hayashida ◽  
Masaya Sugiyama ◽  
Kiyoto Tsuchiya ◽  
Yoshimi Kikuchi ◽  
...  
Keyword(s):  
Hepatitis C Virus ◽  
Hepatitis C ◽  
Genome Analysis ◽  
Japanese Patients ◽  
Full Genome ◽  
Full Genome Analysis ◽  
Hiv 1

Full-genome analysis and pathogenicity of a genetically distinct Russian PRRSV-1 Tyu16 strain

2020 ◽  
Vol 247 ◽  
pp. 108784
Author(s):  
Anton G. Yuzhakov ◽  
Sergei A. Raev ◽  
Alexey M. Shchetinin ◽  
Vladimir A. Gushchin ◽  
Konstantin P. Alekseev ◽  
...  
Keyword(s):  
Genome Analysis ◽  
Full Genome ◽  
Full Genome Analysis

scholarly journals Full-genome analysis of the pandemic (H1N1) 2009 influenza viruses isolated in Ukraine during 2009-2017 years

2019 ◽  
Vol 79 ◽  
pp. 9
Author(s):  
O. Smutko ◽  
A. Fesenko ◽  
L. Radchenko ◽  
O. Onishchenko ◽  
L. Leibenko ◽  
...  
Keyword(s):  
Genome Analysis ◽  
Influenza Viruses ◽  
Pandemic H1n1 ◽  
Full Genome ◽  
Full Genome Analysis ◽  
Pandemic H1n1 2009

scholarly journals Full genome analysis of swine genotype 3 hepatitis E virus isolated from eastern China

2017 ◽  
Vol 18 (6) ◽  
pp. 549-554 ◽  
Author(s):  
Jiang-bing Shuai ◽  
Lu-huan Li ◽  
Ai-yun Li ◽  
Yong-qiang He ◽  
Xiao-feng Zhang
Keyword(s):  
Genome Analysis ◽  
Hepatitis E Virus ◽  
Eastern China ◽  
Hepatitis E ◽  
Full Genome ◽  
Genotype 3 ◽  
Full Genome Analysis

Full genome analysis of bovine astrovirus from fecal samples of cattle in Japan: identification of possible interspecies transmission of bovine astrovirus

2015 ◽  
Vol 160 (10) ◽  
pp. 2491-2501 ◽  
Author(s):  
Makoto Nagai ◽  
Tsutomu Omatsu ◽  
Hiroshi Aoki ◽  
Konosuke Otomaru ◽  
Takehiko Uto ◽  
...  
Keyword(s):  
Genome Analysis ◽  
Interspecies Transmission ◽  
Full Genome ◽  
Fecal Samples ◽  
Full Genome Analysis

scholarly journals Full-Genome Analysis of Influenza A(H7N9) Virus from Shanghai, China, 2014

2014 ◽  
Vol 2 (3) ◽  
Author(s):  
W. Zhang ◽  
Y. He ◽  
L. Xu ◽  
F. Dai ◽  
Z. Mei ◽  
...  
Keyword(s):  
Genome Analysis ◽  
Influenza A ◽  
H7n9 Virus ◽  
Full Genome ◽  
Full Genome Analysis

scholarly journals Identification of New CRF51_01B in Singapore Using Full Genome Analysis of Three HIV Type 1 Isolates

2012 ◽  
Vol 28 (5) ◽  
pp. 527-530 ◽  
Author(s):  
Oon Tek Ng ◽  
Lindsay M. Eyzaguirre ◽  
Jean K. Carr ◽  
Kuan Kiat Chew ◽  
Li Lin ◽  
...  
Keyword(s):  
Genome Analysis ◽  
Full Genome ◽  
Hiv Type 1 ◽  
Full Genome Analysis

Molecular identification and full genome analysis of an echovirus 7 strain isolated from the environment in Greece

Virus Genes ◽  
2010 ◽  
Vol 40 (2) ◽  
pp. 183-192 ◽  
Author(s):  
Zaharoula Kyriakopoulou ◽  
Evaggelos Dedepsidis ◽  
Vaia Pliaka ◽  
Panayotis Mastorakos ◽  
Anastassia Stamati ◽  
...  
Keyword(s):  
Molecular Identification ◽  
Genome Analysis ◽  
Full Genome ◽  
Full Genome Analysis
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