[HTML][HTML] Best practices for variant calling in clinical sequencing
DC Koboldt - Genome Medicine, 2020 - Springer
Next-generation sequencing technologies have enabled a dramatic expansion of clinical
genetic testing both for inherited conditions and diseases such as cancer. Accurate variant …
genetic testing both for inherited conditions and diseases such as cancer. Accurate variant …
[HTML][HTML] Structural variant calling: the long and the short of it
Recent research into structural variants (SVs) has established their importance to medicine
and molecular biology, elucidating their role in various diseases, regulation of gene …
and molecular biology, elucidating their role in various diseases, regulation of gene …
Radiation-related genomic profile of papillary thyroid carcinoma after the Chernobyl accident
INTRODUCTION The 1986 Chernobyl (Chornobyl in Ukrainian) nuclear power plant
accident exposed millions of individuals in the surrounding region to radioactive …
accident exposed millions of individuals in the surrounding region to radioactive …
Computational analysis of cancer genome sequencing data
Distilling biologically meaningful information from cancer genome sequencing data requires
comprehensive identification of somatic alterations using rigorous computational methods …
comprehensive identification of somatic alterations using rigorous computational methods …
[HTML][HTML] Gaining comprehensive biological insight into the transcriptome by performing a broad-spectrum RNA-seq analysis
Abstract RNA-sequencing (RNA-seq) is an essential technique for transcriptome studies,
hundreds of analysis tools have been developed since it was debuted. Although recent …
hundreds of analysis tools have been developed since it was debuted. Although recent …
[HTML][HTML] Diagnosis of fusion genes using targeted RNA sequencing
EE Heyer, IW Deveson, D Wooi, CI Selinger… - Nature …, 2019 - nature.com
Fusion genes are a major cause of cancer. Their rapid and accurate diagnosis can inform
clinical action, but current molecular diagnostic assays are restricted in resolution and …
clinical action, but current molecular diagnostic assays are restricted in resolution and …
[HTML][HTML] Best practices for bioinformatic characterization of neoantigens for clinical utility
Neoantigens are newly formed peptides created from somatic mutations that are capable of
inducing tumor-specific T cell recognition. Recently, researchers and clinicians have …
inducing tumor-specific T cell recognition. Recently, researchers and clinicians have …
[HTML][HTML] Analysis of transcriptome and epitranscriptome in plants using PacBio Iso-Seq and nanopore-based direct RNA sequencing
L Zhao, H Zhang, MV Kohnen, KVSK Prasad… - Frontiers in …, 2019 - frontiersin.org
Nanopore sequencing from Oxford Nanopore Technologies (ONT) and Pacific BioSciences
(PacBio) single-molecule real-time (SMRT) long-read isoform sequencing (Iso-Seq) are …
(PacBio) single-molecule real-time (SMRT) long-read isoform sequencing (Iso-Seq) are …
Recent advances in cancer fusion transcript detection
R Dorney, BP Dhungel, JEJ Rasko… - Briefings in …, 2023 - academic.oup.com
Extensive investigation of gene fusions in cancer has led to the discovery of novel
biomarkers and therapeutic targets. To date, most studies have neglected chromosomal …
biomarkers and therapeutic targets. To date, most studies have neglected chromosomal …
Recurrent chimeric fusion RNAs in non-cancer tissues and cells
Gene fusions and their products (RNA and protein) were once thought to be unique features
to cancer. However, chimeric RNAs can also be found in normal cells. Here, we performed …
to cancer. However, chimeric RNAs can also be found in normal cells. Here, we performed …