A5000524335- Genomics and Rare Diseases
- Genetic Neurodegenerative Diseases
- Neurogenetic and Muscular Disorders Research
- Muscle Physiology and Disorders
- Mitochondrial Function and Pathology
- BRCA gene mutations in cancer
- Metabolism and Genetic Disorders
- Amyotrophic Lateral Sclerosis Research
- Epilepsy research and treatment
- Genomic variations and chromosomal abnormalities
- Cardiomyopathy and Myosin Studies
- Genetics and Neurodevelopmental Disorders
- Neurological diseases and metabolism
- Prion Diseases and Protein Misfolding
- Machine Learning in Bioinformatics
- Congenital Anomalies and Fetal Surgery
- Neurological disorders and treatments
- RNA modifications and cancer
- Polysaccharides and Plant Cell Walls
- CRISPR and Genetic Engineering
- RNA and protein synthesis mechanisms
- Alzheimer's disease research and treatments
- Prenatal Screening and Diagnostics
- Hereditary Neurological Disorders
- Cancer Genomics and Diagnostics
Quest Diagnostics (United States)
2014-2024
Blueprint Genetics (Finland)
2024
Quest Diagnostics (United Kingdom)
2022-2024
Carleton University
2003
Abstract We report the frequency, positive rate, and type of mutations in 14 genes ( PMP22 , GJB1 MPZ MFN2 SH3TC2 GDAP1 NEFL LITAF GARS HSPB1 FIG4 EGR2 PRX RAB7A ) associated with Charcot–Marie–Tooth disease CMT a cohort 17,880 individuals referred to commercial genetic testing laboratory. Deidentified results from sequencing assays multiplex ligation‐dependent probe amplification MLPA were analyzed including 100,102 S anger sequencing, 2338 next‐generation NGS ), 21,990 assays. Genetic...
We developed a rules-based scoring system to classify DNA variants into five categories including pathogenic, likely variant of uncertain significance (VUS), benign, and benign. Over 16,500 pathogenicity assessments on 11,894 from 338 genes were analyzed for based prediction tools, population frequency, co-occurrence, segregation, functional studies collected internal external sources. Scores calculated by trained scientists using quantitative framework that assigned differential weighting...
The field of epilepsy genetics is advancing rapidly and emerging as a frequent indication for diagnostic genetic testing. Within the larger ClinGen framework, Epilepsy Gene Curation Expert Panel tasked with connecting two increasingly separate fields: domain traditional clinical epileptology, its own established language classification criteria, evolving area testing that adheres to formal criteria gene variant curation. We identify critical components unique curation effort, including: (a)...
Frontotemporal lobar degeneration (FTLD) is a leading cause of dementia, and elucidating its genetic underpinnings critical. FTLD research centers typically recruit patient cohorts that are limited by the center's specialty ways in which geographic location affects ethnic makeup participants. Novel sources data needed to get population estimates contribution variants known FTLD-associated genes.We compared FLTD-associated microtubule-associated protein tau (MAPT), progranulin (GRN),...
Spinal muscular atrophy (SMA) is an autosomal recessive genetic disease characterized by muscle weakness and with usually typical cognition. The first disease-modifying therapy for SMA, nusinersen, was approved the United States Food Drug Administration (FDA) in 2016 leads to improved outcomes, especially when administered presymptomatically. Population-wide carrier screening newborn (NBS) are now recommended several professional organizations promote reproductive autonomy, early diagnosis,...
Multiple societies recommend genetic testing for patients with inherited arrhythmias (IAs) and/or cardiomyopathies (CMs). Identifying the underlying cause can inform management through gene-specific recommendations/therapies, surveillance of extra-cardiac features. Genetic test results may help determine clinical trial eligibility. Few cohort studies have examined rate informative in a heterogeneous suspicion IAs and CMs; these not always included analysis both nuclear mitochondrial (mtDNA) genes.
Myotonic dystrophy type 1 (DM1) is a variable, multisystem Mendelian disorder with reported incidence of 4.76/10,000 based on New York newborn screening. Clinical findings DM1 can be mild to severe and include myotonia, muscle weakness, cataracts, cardiac conduction abnormalities, insulin resistance, central nervous system, endocrine, gastrointestinal abnormalities. has been categorized into 3 overlapping phenotypes: mild, classic, congenital. The repeat expansion in the DMPK gene that...
Traditionally, the field of genetics has used patient-reported genetic ancestry to assist in risk assessment, calculate detection rates, and understand residual risks for recessive or X-linked diseases. Patient-reported is useful variant curation, based on practice guidelines from medical societies. Words describe a person's race, ethnicity, have changed over last few centuries, especially decades. The origin use Caucasian people European come into question. With recommendations Department...
OBJECTIVE: To determine the relative prevalence of genetically confirmed limb girdle muscular dystrophy (LGMD) subtypes in United States population.
OBJECTIVE: To determine the frequencies and distributions of mutations variants unknown clinical significance (VUS) in COL6A1 , COL6A2 COL6A3 genes specimens analyzed for collagen VI-related congenital muscular dystrophy (CMD) at a laboratory. BACKGROUND: Mutations cause mild to severe continuum disorders including Bethlem myopathy (BM), Ullrich (UCMD), intermediate phenotypes. The genotype/phenotype correlation is challenging due high degree genetic heterogeneity patients with similar...
OBJECTIVE: To use a protein computational modeling approach to predict pathogenic structural alterations in the type I brain voltage gated sodium channel (NAV1.1) based on 139 non-synonymous (ns) mutations its corresponding gene, SCN1A. BACKGROUND: SCN1A-related seizure disorders are characterized by spectrum of types including simple febrile seizures, generalized epilepsy with seizures plus, Dravet syndrome and intractable childhood tonic-clonic seizures. The quaternary structure human...
OBJECTIVE: To compare the analysis of facioscapulohumeral muscular dystrophy type 1 locus (FSHD1) on chromosome 4q35-qter (chr 4q) by Southern blot (SB) to molecular combing (MC) in genomic DNA specimens referred a clinical laboratory for FSHD testing. BACKGROUND: Current diagnostic testing FSHD1 SB may lead indeterminate results up 23[percnt] cases. MC represent an improvement over its analytical ability directly visualize D4Z4 macrosatellite repeat arrays specific chr 4q and 10q alleles....
OBJECTIVE: To assess the frequency and type of mutations 141 epilepsy related genes in 390 individuals referred to a commercial clinical laboratory for testing. BACKGROUND: Epilepsy is common, clinically genetically heterogeneous disease characterized by recurrent seizures. The molecular diagnosis critical assessing recurrence risk subsequent pregnancies may guide antiepileptic therapies. Next-generation DNA sequencing (NGS) allows simultaneous evaluation many relevant aid identification...
OBJECTIVE: To determine whether the frequency of FTLD pathogenic variants in MAPT, GRN, and C9orf72 differed between a specialty clinic commercial clinical laboratory. BACKGROUND: Frontotemporal lobar degeneration (FTLD) is clinicopathologic neurodegenerative syndrome that affects behavior language. About half cases are familial. Among familial roughly 15[percnt] caused by dominantly inherited genes. METHODS: The frequencies three genes were determined reviewing de-identified genetic testing...
OBJECTIVE: To assess the frequency of damaging variants in specimens received at a clinical laboratory for Early Onset Familial Alzheimer's disease (EOFAD) evaluation. BACKGROUND: EOFAD is caused by monogenic alterations PSEN1, PSEN2, and APP genes. Aside from earlier age onset, clinically indistinguishable sporadic (AD). Both genetic forms are incurable diseases with treatment options that provide only transient benefits. METHODS: Sanger sequencing was used to detect multigene panel an...