User profiles for "author:Matt Velinder"
Matt VelinderMetrodora Institute Verified email at metrodora.co Cited by 654 |
[HTML][HTML] Effective variant filtering and expected candidate variant yield in studies of rare human disease
In studies of families with rare disease, it is common to screen for de novo mutations, as well
as recessive or dominant variants that explain the phenotype. However, the filtering …
as recessive or dominant variants that explain the phenotype. However, the filtering …
[HTML][HTML] Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases
SN Kobren, D Baldridge, M Velinder, JB Krier… - Genetics in …, 2021 - nature.com
Purpose Genomic sequencing has become an increasingly powerful and relevant tool to be
leveraged for the discovery of genetic aberrations underlying rare, Mendelian conditions …
leveraged for the discovery of genetic aberrations underlying rare, Mendelian conditions …
SON-Related Zhu-Tokita-Takenouchi-Kim Syndrome With Recurrent Hemiplegic Migraine: Putative Role of PRRT2
J Langford, L Vukadin, JC Carey, LD Botto… - Neurology …, 2023 - AAN Enterprises
Background and Objectives Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome (OMIM 617140)
is a recently identified neurodevelopmental disorder caused by heterozygous loss-of …
is a recently identified neurodevelopmental disorder caused by heterozygous loss-of …
Genome sequencing reveals a deep intronic splicing ACVRL1 mutation hotspot in Hereditary Haemorrhagic Telangiectasia
WL Wooderchak-Donahue, J McDonald… - Journal of Medical …, 2018 - jmg.bmj.com
Introduction Hereditary haemorrhagic telangiectasia (HHT) is a genetically heterogeneous
disorder caused by mutations in the genes ENG, ACVRL1, and SMAD4. Yet the genetic …
disorder caused by mutations in the genes ENG, ACVRL1, and SMAD4. Yet the genetic …
[HTML][HTML] Gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritization
With increasing utilization of comprehensive genomic data to guide clinical care, anticipated
to become the standard of care in many clinical settings, the practice of diagnostic medicine …
to become the standard of care in many clinical settings, the practice of diagnostic medicine …
Rapid clinical diagnostic variant investigation of genomic patient sequencing data with iobio web tools
A Ward, MA Karren, T Di Sera, C Miller… - Journal of clinical and …, 2017 - cambridge.org
IntroductionComputational analysis of genome or exome sequences may improve inherited
disease diagnosis, but is costly and time-consuming. MethodsWe describe the use of iobio …
disease diagnosis, but is costly and time-consuming. MethodsWe describe the use of iobio …
[HTML][HTML] Clin.iobio: A Collaborative Diagnostic Workflow to Enable Team-Based Precision Genomics
A Ward, M Velinder, T Di Sera, A Ekawade… - Journal of Personalized …, 2022 - mdpi.com
The primary goal of precision genomics is the identification of causative genetic variants in
targeted or whole-genome sequencing data. The ultimate clinical hope is that these findings …
targeted or whole-genome sequencing data. The ultimate clinical hope is that these findings …
[HTML][HTML] ped_draw: pedigree drawing with ease
M Velinder, D Lee, G Marth - BMC bioinformatics, 2020 - Springer
Background Pedigree files are ubiquitously used within bioinformatics and genetics studies
to convey critical information about relatedness, sex and affected status of study samples …
to convey critical information about relatedness, sex and affected status of study samples …
[HTML][HTML] Genepanel. iobio-an easy to use web tool for generating disease-and phenotype-associated gene lists
A Ekawade, M Velinder, A Ward, T DiSera… - BMC Medical …, 2019 - Springer
When ordering genetic testing or triaging candidate variants in exome and genome
sequencing studies, it is critical to generate and test a comprehensive list of candidate …
sequencing studies, it is critical to generate and test a comprehensive list of candidate …
[HTML][HTML] O20: Beyond the genome: RNA sequencing resolves unique diagnostic challenges
R Lewis, M Fulmer, J Zhao, L Pizzo, T Wen… - Genetics in Medicine …, 2024 - Elsevier
Methods We recruited patients with diverse clinical presentations and suspected genetic
disorders, and conducted comprehensive assessments, including medical histories …
disorders, and conducted comprehensive assessments, including medical histories …