Rediscovering tandem repeat variation in schizophrenia: challenges and opportunities
R Birnbaum - Translational Psychiatry, 2023 - nature.com
Tandem repeats (TRs) are prevalent throughout the genome, constituting at least 3% of the
genome, and often highly polymorphic. The high mutation rate of TRs, which can be orders …
genome, and often highly polymorphic. The high mutation rate of TRs, which can be orders …
A reference haplotype panel for genome-wide imputation of short tandem repeats
Short tandem repeats (STRs) are involved in dozens of Mendelian disorders and have been
implicated in complex traits. However, genotyping arrays used in genome-wide association …
implicated in complex traits. However, genotyping arrays used in genome-wide association …
Deep learning of genomic variation and regulatory network data
The human genome is now investigated through high-throughput functional assays, and
through the generation of population genomic data. These advances support the …
through the generation of population genomic data. These advances support the …
[HTML][HTML] Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the American College of Medical Genetics …
G Raca, C Astbury, A Behlmann, MJ De Castro… - Genetics in …, 2023 - Elsevier
Disclaimer: This Points to Consider document is designed primarily as an educational
resource for clinical laboratory geneticists to help them provide quality clinical laboratory …
resource for clinical laboratory geneticists to help them provide quality clinical laboratory …
[HTML][HTML] Dentatorubral-pallidoluysian atrophy: an update
Background Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare, autosomal dominantly
inherited disorder characterized by myoclonus, epilepsy, ataxia, and dementia. Diagnosis is …
inherited disorder characterized by myoclonus, epilepsy, ataxia, and dementia. Diagnosis is …
A GCC repeat in RAB26 undergoes natural selection in human and harbors divergent genotypes in late-onset Alzheimer's disease
S Alizadeh, S Khamse, N Tajeddin, HRK Khorshid… - Gene, 2024 - Elsevier
Although mainly located in genic regions and being mutation hotspots, intact blocks of CG-
rich trinucleotide short tandem repeats (STRs) are largely overlooked with respect to their …
rich trinucleotide short tandem repeats (STRs) are largely overlooked with respect to their …
Genome-wide contribution of common short-tandem repeats to Parkinson's disease genetic risk
Parkinson's disease is a complex neurodegenerative disorder with a strong genetic
component, for which most known disease-associated variants are single nucleotide …
component, for which most known disease-associated variants are single nucleotide …
Length variation in short tandem repeats affects gene expression in natural populations of Arabidopsis thaliana
The genetic basis for the fine-tuned regulation of gene expression is complex and ultimately
influences the phenotype and thus the local adaptation of natural populations. Short tandem …
influences the phenotype and thus the local adaptation of natural populations. Short tandem …
Detection of repeat expansions in large next generation DNA and RNA sequencing data without alignment
Bioinformatic methods for detecting short tandem repeat expansions in short-read
sequencing have identified new repeat expansions in humans, but require alignment …
sequencing have identified new repeat expansions in humans, but require alignment …
Diagnostic uplift through the implementation of short tandem repeat analysis using exome sequencing
To date, approximately 50 short tandem repeat (STR) disorders have been identified; yet,
clinical laboratories rarely conduct STR analysis on exomes. To assess its diagnostic value …
clinical laboratories rarely conduct STR analysis on exomes. To assess its diagnostic value …