Phenotype‐driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders

2021 ◽  
Author(s):  
Nikolaos M. Marinakis ◽  
Maria Svingou ◽  
Danai Veltra ◽  
Kyriaki Kekou ◽  
Christalena Sofocleous ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Diagnostic Yield ◽  
Mendelian Disorders ◽  
High Diagnostic Yield ◽  
Novel Variants

High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders

2015 ◽  
Vol 134 (9) ◽  
pp. 967-980 ◽  
Author(s):  
Tarunashree Yavarna ◽  
Nader Al-Dewik ◽  
Mariam Al-Mureikhi ◽  
Rehab Ali ◽  
Fatma Al-Mesaifri ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Diagnostic Yield ◽  
Middle Eastern ◽  
Mendelian Disorders ◽  
High Diagnostic Yield ◽  
Clinical Exome Sequencing

scholarly journals Community‐based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability

2020 ◽  
Vol 8 (10) ◽  
Author(s):  
Aniko Sabo ◽  
David Murdock ◽  
Shannon Dugan ◽  
Qingchang Meng ◽  
Marie‐Claude Gingras ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Exome Sequencing ◽  
Diagnostic Yield ◽  
Community Based ◽  
High Diagnostic Yield

scholarly journals High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting

2015 ◽  
Vol 160 (2) ◽  
pp. 354-363.e9 ◽  
Author(s):  
Kristy Lee ◽  
Jonathan S. Berg ◽  
Laura Milko ◽  
Kristy Crooks ◽  
Mei Lu ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Diagnostic Yield ◽  
High Diagnostic Yield ◽  
Retinal Dystrophies ◽  
Whole Exome

High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing

2017 ◽  
Vol 92 (6) ◽  
pp. 594-605 ◽  
Author(s):  
Yoo-Mi Kim ◽  
Yun-Jin Lee ◽  
Jae Hong Park ◽  
Hyoung-Doo Lee ◽  
Chong Kun Cheon ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Diagnostic Yield ◽  
Growth Disorders ◽  
Targeted Exome Sequencing ◽  
High Diagnostic Yield

Genetic landscape of congenital disorders in patients from Southeast Asia: results from sequencing using a gene panel for Mendelian phenotypes

2020 ◽  
Vol 106 (1) ◽  
pp. 38-43 ◽  
Author(s):  
Heming Wei ◽  
Angeline Lai ◽  
Ee Shien Tan ◽  
Mark Jean Aan Koh ◽  
Ivy Ng ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Diagnostic Yield ◽  
Genetic Disorders ◽  
Good Alternative ◽  
Gene Panel ◽  
Mendelian Disorders ◽  
Large Gene ◽  
Pathogenic Variants ◽  
Whole Exome

ObjectiveTo test the utility and diagnostic yield of a medical-exome gene panel for identifying pathogenic variants in Mendelian disorders.MethodsNext-generation sequencing was performed with the TruSight One gene panel (targeting 4813 genes) followed by MiSeq sequencing on 216 patients who presented with suspected genetic disorders as assessed by their attending physicians.ResultsThere were 56 pathogenic and 36 likely pathogenic variants across 57 genes identified in 87 patients. Causal mutations were more likely to be truncating and from patients with a prior clinical diagnosis. Another 18 promising variants need further evaluation for more evidence to meet the requirement for potential upgrade to pathogenic. Forty-five of the 92 clinically significant variants were novel.ConclusionThe 40.3% positive yield compares favourably with similar studies using either this panel or whole exome sequencing, demonstrating that large gene panels could be a good alternative to whole exome sequencing for quick genetic confirmation of Mendelian disorders.

scholarly journals Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield

2019 ◽  
Vol 22 (4) ◽  
pp. 736-744 ◽  
Author(s):  
Cynthia S. Gubbels ◽  
Grace E. VanNoy ◽  
Jill A. Madden ◽  
Deborah Copenheaver ◽  
Sandra Yang ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Critically Ill ◽  
Diagnostic Yield ◽  
High Diagnostic Yield ◽  
Critically Ill Neonates ◽  
Selection Of

scholarly journals High diagnostic yield and novel variants in very late-onset spasticity

2019 ◽  
Vol 33 (1) ◽  
pp. 27-32
Author(s):  
Momen Almomen ◽  
Kristina Martens ◽  
Asfia Quadir ◽  
Carly Sabine Pontifex ◽  
Alexandra Hanson ◽  
...  
Keyword(s):  
Late Onset ◽  
Diagnostic Yield ◽  
High Diagnostic Yield ◽  
Novel Variants
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