Direct transposition of native DNA for sensitive multimodal single-molecule sequencing
Concurrent readout of sequence and base modifications from long unamplified DNA
templates by Pacific Biosciences of California (PacBio) single-molecule sequencing …
templates by Pacific Biosciences of California (PacBio) single-molecule sequencing …
Chasing Sequencing Perfection: Marching Toward Higher Accuracy and Lower Costs
Abstract Next-generation sequencing (NGS), represented by Illumina platforms, has been an
essential cornerstone of basic and applied research. However, the sequencing error rate of …
essential cornerstone of basic and applied research. However, the sequencing error rate of …
Neuropathologically directed profiling of PRNP somatic and germline variants in sporadic human prion disease
Abstract Creutzfeldt–Jakob Disease (CJD), the most common human prion disease, is
associated with pathologic misfolding of the prion protein (PrP), encoded by the PRNP gene …
associated with pathologic misfolding of the prion protein (PrP), encoded by the PRNP gene …
[HTML][HTML] Disentangling sources of clock-like mutations in germline and soma
The rates of mutations vary across cell types. To identify causes of this variation, mutations
are often decomposed into a combination of the single base substitution (SBS)“signatures” …
are often decomposed into a combination of the single base substitution (SBS)“signatures” …
Ultra-sensitive molecular residual disease detection through whole genome sequencing with single-read error correction
X Li, T Liu, A Bacchiocchi, M Li, W Cheng… - EMBO Molecular …, 2024 - embopress.org
While whole genome sequencing (WGS) of cell-free DNA (cfDNA) holds enormous promise
for detection of molecular residual disease (MRD), its performance is limited by WGS error …
for detection of molecular residual disease (MRD), its performance is limited by WGS error …
The clock-like accumulation of germline and somatic mutations can arise from the interplay of DNA damage and repair
The rates at which mutations accumulate across human cell types vary. To identify causes of
this variation, mutations are often decomposed into a combination of the single-base …
this variation, mutations are often decomposed into a combination of the single-base …
NeMu: a comprehensive pipeline for accurate reconstruction of neutral mutation spectra from evolutionary data
The recognized importance of mutational spectra in molecular evolution is yet to be fully
exploited beyond human cancer studies and model organisms. The wealth of intraspecific …
exploited beyond human cancer studies and model organisms. The wealth of intraspecific …