Visualization and analysis of medically relevant tandem repeats in nanopore sequencing of control cohorts with pathSTR
W De Coster, I Hoijer, I Bruggeman, S D'Hert… - Genome …, 2024 - genome.cshlp.org
The lack of population-scale databases hampers research and diagnostics for medically
relevant tandem repeats and repeat expansions. We attempt to fill this gap using our …
relevant tandem repeats and repeat expansions. We attempt to fill this gap using our …
A comprehensive tandem repeat catalog of the human genome
With the increasing availability of long-read sequencing data, high-quality human genome
assemblies, and software for fully characterizing tandem repeats, genome-wide genotyping …
assemblies, and software for fully characterizing tandem repeats, genome-wide genotyping …
Enhanced Detection and Genotyping of Disease-Associated Tandem Repeats Using HMMSTR and Targeted Long-Read Sequencing
K Van Deynze, C Mumm, CJ Maltby, JA Switzenberg… - medRxiv, 2024 - medrxiv.org
Tandem repeat sequences comprise approximately 8% of the human genome and are
linked to more than 50 neurodegenerative disorders. Accurate characterization of disease …
linked to more than 50 neurodegenerative disorders. Accurate characterization of disease …
STIX: Long-reads based Accurate Structural Variation Annotation at Population Scale
X Zheng, M Chowdhury, B Mirpochoev, A Clauset… - bioRxiv, 2024 - biorxiv.org
The prioritization of Structural Variants (SV), which is needed to rank and identify potential
pathogenic alleles, is still in its infancy. This is exemplified over gnomAD only being able to …
pathogenic alleles, is still in its infancy. This is exemplified over gnomAD only being able to …
The Platinum Pedigree: A long-read benchmark for genetic variants
Z Kronenberg, C Nolan, T Mokveld, WJ Rowell, S Lee… - bioRxiv, 2024 - biorxiv.org
Recent advances in genome sequencing have improved variant calling in complex regions
of the human genome. However, it is difficult to quantify variant calling performance since …
of the human genome. However, it is difficult to quantify variant calling performance since …
TRCompDB: A reference of human tandem repeat sequence and composition variation from long-read assemblies
B Gu, M Chaisson - bioRxiv, 2024 - biorxiv.org
Tandem repeats (TRs), including short tandem repeats (STRs) and variable-number tandem
repeats (VNTRs), are hypermutable genetic elements consisting of tandem arrays of …
repeats (VNTRs), are hypermutable genetic elements consisting of tandem arrays of …
[PDF][PDF] VACmap: An Accurate Long-Read Aligner for Unraveling Complex Genomic 2 Rearrangements 3
H Ding, FJ Sedlazeck, C Proukakis, C Morley, M Toffoli… - researchgate.net
Inversions, duplications, and other critical medically challenging variations are often 16
ignored by routine genetic analyses. This is due to the complexity of these alleles but also …
ignored by routine genetic analyses. This is due to the complexity of these alleles but also …
[引用][C] Advancements and future perspectives of human tandem repeats
Advancements and future perspectives of human tandem repeats Advancements and future
perspectives of human tandem repeats Sci Bull (Beijing). 2024 Aug 8:S2095-9273(24)00566-8 …
perspectives of human tandem repeats Sci Bull (Beijing). 2024 Aug 8:S2095-9273(24)00566-8 …