scholarly journals Exome sequencing identifies a disease variant of the mitochondrial ATP‐Mg/Pi carrier SLC25A25 in two families with kidney stones

2021 ◽  
Author(s):  
M. Reza Jabalameli ◽  
Fiona M. Fitzpatrick ◽  
Roberto Colombo ◽  
Sarah A. Howles ◽  
Gary Leggatt ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Kidney Stones ◽  
Disease Variant

scholarly journals A flexible computational pipeline for research analyses of unsolved clinical exome cases

2020 ◽  
Vol 5 (1) ◽  
Author(s):  
Timo Lassmann ◽  
Richard W. Francis ◽  
Alexia Weeks ◽  
Dave Tang ◽  
Sarra E. Jamieson ◽  
...  
Keyword(s):  
Open Access ◽  
Rare Disease ◽  
Exome Sequencing ◽  
Gene Variant ◽  
Computational Pipeline ◽  
Patient Report ◽  
Web Based ◽  
Pathogenic Variants ◽  
Flexible Framework ◽  
Disease Variant

AbstractExome sequencing has enabled molecular diagnoses for rare disease patients but often with initial diagnostic rates of ~25−30%. Here we develop a robust computational pipeline to rank variants for reassessment of unsolved rare disease patients. A comprehensive web-based patient report is generated in which all deleterious variants can be filtered by gene, variant characteristics, OMIM disease and Phenolyzer scores, and all are annotated with an ACMG classification and links to ClinVar. The pipeline ranked 21/34 previously diagnosed variants as top, with 26 in total ranked ≤7th, 3 ranked ≥13th; 5 failed the pipeline filters. Pathogenic/likely pathogenic variants by ACMG criteria were identified for 22/145 unsolved cases, and a previously undefined candidate disease variant for 27/145. This open access pipeline supports the partnership between clinical and research laboratories to improve the diagnosis of unsolved exomes. It provides a flexible framework for iterative developments to further improve diagnosis.

scholarly journals Disease Variant Landscape of a Large Multiethnic Population of Moyamoya Patients by Exome Sequencing

2015 ◽  
Vol 6 (1) ◽  
pp. 41-49 ◽  
Author(s):  
Lorelei D. Shoemaker ◽  
Michael J. Clark ◽  
Anil Patwardhan ◽  
Gemma Chandratillake ◽  
Sarah Garcia ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Multiethnic Population ◽  
Disease Variant

More Children Are Getting Kidney Stones

2012 ◽  
Vol 42 (4) ◽  
pp. 61-62
Author(s):  
BRUCE JANCIN
Keyword(s):  
Kidney Stones

Whole Exome Sequencing (WES) in Familien mit linksventrikulärer Ausfluβtraktobstruktion (LVOTO)

2014 ◽  
Vol 62 (S 02) ◽  
Author(s):  
M. Hitz ◽  
S. Al-Turki ◽  
A. Schalinski ◽  
U. Bauer ◽  
T. Pickardt ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Whole Exome

Identification of Novel Germline and Tumor-Specific Nucleotide Variants and Copy Number Variation in Clival Chordomas by Exome Sequencing

2015 ◽  
Vol 76 (S 01) ◽  
Author(s):  
Georgios Zenonos ◽  
Peter Howard ◽  
Maureen Lyons-Weiler ◽  
Wang Eric ◽  
William LaFambroise ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Exome Sequencing ◽  
Copy Number ◽  
Number Variation ◽  
Specific Nucleotide

FV 1031. Whole Exome Sequencing for Children with Dyskinetic Movement Disorder

2018 ◽  
Author(s):  
Yasemin Dincer ◽  
Michael Zech ◽  
Matias Wagner ◽  
Nikolai Jung ◽  
Volker Mall ◽  
...  
Keyword(s):  
Movement Disorder ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Whole Exome ◽  
Dyskinetic Movement
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