The Next, Next-Generation of Sequencing, Promising to Boost Research and Clinical Practice
Five years on from our award-winning review on Nextgeneration sequencing and emerging
technologies, 1 a rapid pace of fundamental advances has markedly altered the landscape …
technologies, 1 a rapid pace of fundamental advances has markedly altered the landscape …
Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications
Short tandem repeats (STRs) are a class of repetitive elements, composed of tandem arrays
of 1–6 base pair sequence motifs, that comprise a substantial fraction of the human genome …
of 1–6 base pair sequence motifs, that comprise a substantial fraction of the human genome …
Analysis and benchmarking of small and large genomic variants across tandem repeats
Tandem repeats (TRs) are highly polymorphic in the human genome, have thousands of
associated molecular traits and are linked to over 60 disease phenotypes. However, they …
associated molecular traits and are linked to over 60 disease phenotypes. However, they …
HiPhase: jointly phasing small, structural, and tandem repeat variants from HiFi sequencing
Motivation In diploid organisms, phasing is the problem of assigning the alleles at
heterozygous variants to one of two haplotypes. Reads from PacBio HiFi sequencing …
heterozygous variants to one of two haplotypes. Reads from PacBio HiFi sequencing …
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 …
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing
Solve-RD is a pan-European rare disease (RD) research program that aims to identify
disease-causing genetic variants in previously undiagnosed RD families. We utilized 10-fold …
disease-causing genetic variants in previously undiagnosed RD families. We utilized 10-fold …
[HTML][HTML] Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders
SM Hiatt, JMJ Lawlor, LH Handley, DR Latner… - medRxiv, 2024 - ncbi.nlm.nih.gov
Variant detection from long-read genome sequencing (lrGS) has proven to be considerably
more accurate and comprehensive than variant detection from short-read genome …
more accurate and comprehensive than variant detection from short-read genome …
Towards routine long-read sequencing for rare disease: a national pilot study on chromosomal rearrangements
J Eisfeldt, A Ameur, F Lenner, ET Berk de Boer, M Ek… - medRxiv, 2023 - medrxiv.org
Background Clinical genetic laboratories often require comprehensive analysis of
chromosomal rearrangements/structural variants (SVs) which can range from gross …
chromosomal rearrangements/structural variants (SVs) which can range from gross …
A phenome-wide association study of tandem repeat variation in 168,554 individuals from the UK Biobank
Most genetic association studies focus on binary variants. To identify the effects of multi-
allelic variation of tandem repeats (TRs) on human traits, we performed direct TR genotyping …
allelic variation of tandem repeats (TRs) on human traits, we performed direct TR genotyping …
Optical genome mapping enables accurate repeat expansion testing
B van der Sanden, K Neveling, S Shukor… - bioRxiv, 2024 - biorxiv.org
Short tandem repeats (STRs) are amongst the most abundant class of variations in human
genomes and are meiotically and mitotically unstable which leads to expansions and …
genomes and are meiotically and mitotically unstable which leads to expansions and …