Envisioning a new era: complete genetic information from routine, telomere-to-telomere genomes
Advances in long-read sequencing and assembly now mean that individual labs can
generate phased genomes that are more accurate and more contiguous than the original …
generate phased genomes that are more accurate and more contiguous than the original …
A signal processing and deep learning framework for methylation detection using Oxford Nanopore sequencing
Oxford Nanopore sequencing can detect DNA methylations from ionic current signal of
single molecules, offering a unique advantage over conventional methods. Additionally …
single molecules, offering a unique advantage over conventional methods. Additionally …
DNA 5-methylcytosine detection and methylation phasing using PacBio circular consensus sequencing
Long single-molecular sequencing technologies, such as PacBio circular consensus
sequencing (CCS) and nanopore sequencing, are advantageous in detecting DNA 5 …
sequencing (CCS) and nanopore sequencing, are advantageous in detecting DNA 5 …
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation
Following the diagnosis of a paediatric disorder caused by an apparently de novo mutation,
a recurrence risk of 1–2% is frequently quoted due to the possibility of parental germline …
a recurrence risk of 1–2% is frequently quoted due to the possibility of parental germline …
Shedding light on DNA methylation and its clinical implications: the impact of long-read-based nanopore technology
DNA methylation is an essential epigenetic mechanism for regulation of gene expression,
through which many physiological (X-chromosome inactivation, genetic imprinting …
through which many physiological (X-chromosome inactivation, genetic imprinting …
MethPhaser: methylation-based long-read haplotype phasing of human genomes
The assignment of variants across haplotypes, phasing, is crucial for predicting the
consequences, interaction, and inheritance of mutations and is a key step in improving our …
consequences, interaction, and inheritance of mutations and is a key step in improving our …
Graphasing: phasing diploid genome assembly graphs with single-cell strand sequencing
M Henglin, M Ghareghani, WT Harvey, D Porubsky… - Genome Biology, 2024 - Springer
Haplotype information is crucial for biomedical and population genetics research. However,
current strategies to produce de novo haplotype-resolved assemblies often require either …
current strategies to produce de novo haplotype-resolved assemblies often require either …
Prognostic importance of direct assignment of parent-of-origin via long-read genome and epigenome sequencing in retinoblastoma
AW Stacey, K Nakamichi, J Huey, J Stevens… - JCI insight, 2024 - insight.jci.org
BACKGROUND. Current clinical sequencing methods cannot effectively detect DNA
methylation and allele-specific variation to provide parent-of-origin information from the …
methylation and allele-specific variation to provide parent-of-origin information from the …
High accuracy methylation identification tools on single molecular level for PacBio HiFi data
Y Chen, B Wu, Y Ding, L Niu, X Bai, Z Lin, CL **ao - bioRxiv, 2024 - biorxiv.org
PacBio Circular Consensus Sequencing (CCS) allows us to obtain highly accurate bases
and simultaneously determine the methylation states of individual molecules. However …
and simultaneously determine the methylation states of individual molecules. However …
[HTML][HTML] Expanding Upon Genomics in Rare Diseases: Epigenomic Insights
DNA methylation is an essential epigenetic modification that plays a crucial role in
regulating gene expression and maintaining genomic stability. With the advancement in …
regulating gene expression and maintaining genomic stability. With the advancement in …