A guide for the diagnosis of rare and undiagnosed disease: beyond the exome
Rare diseases affect 30 million people in the USA and more than 300–400 million
worldwide, often causing chronic illness, disability, and premature death. Traditional …
worldwide, often causing chronic illness, disability, and premature death. Traditional …
Long-read human genome sequencing and its applications
Over the past decade, long-read, single-molecule DNA sequencing technologies have
emerged as powerful players in genomics. With the ability to generate reads tens to …
emerged as powerful players in genomics. With the ability to generate reads tens to …
Detection of mosaic and population-level structural variants with Sniffles2
Calling structural variations (SVs) is technically challenging, but using long reads remains
the most accurate way to identify complex genomic alterations. Here we present Sniffles2 …
the most accurate way to identify complex genomic alterations. Here we present Sniffles2 …
Towards population-scale long-read sequencing
W De Coster, MH Weissensteiner… - Nature Reviews …, 2021 - nature.com
Long-read sequencing technologies have now reached a level of accuracy and yield that
allows their application to variant detection at a scale of tens to thousands of samples …
allows their application to variant detection at a scale of tens to thousands of samples …
Structural variant calling: the long and the short of it
M Mahmoud, N Gobet, DI Cruz-Dávalos, N Mounier… - Genome biology, 2019 - Springer
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 …
Most large structural variants in cancer genomes can be detected without long reads
Short-read sequencing is the workhorse of cancer genomics yet is thought to miss many
structural variants (SVs), particularly large chromosomal alterations. To characterize missing …
structural variants (SVs), particularly large chromosomal alterations. To characterize missing …
Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome
The DNA sequencing technologies in use today produce either highly accurate short reads
or less-accurate long reads. We report the optimization of circular consensus sequencing …
or less-accurate long reads. We report the optimization of circular consensus sequencing …
Structural variation in the sequencing era
Identifying structural variation (SV) is essential for genome interpretation but has been
historically difficult due to limitations inherent to available genome technologies. Detection …
historically difficult due to limitations inherent to available genome technologies. Detection …
Clinical application of advanced multi-omics tumor profiling: Shaping precision oncology of the future
D Akhoundova, MA Rubin - Cancer Cell, 2022 - cell.com
Next-generation DNA sequencing technology has dramatically advanced clinical oncology
through the identification of therapeutic targets and molecular biomarkers, leading to the …
through the identification of therapeutic targets and molecular biomarkers, leading to the …
Variant calling and benchmarking in an era of complete human genome sequences
Genetic variant calling from DNA sequencing has enabled understanding of germline
variation in hundreds of thousands of humans. Sequencing technologies and variant-calling …
variation in hundreds of thousands of humans. Sequencing technologies and variant-calling …