High-throughput sequencing technologies
JA Reuter, DV Spacek, MP Snyder - Molecular cell, 2015 - cell.com
The human genome sequence has profoundly altered our understanding of biology, human
diversity, and disease. The path from the first draft sequence to our nascent era of personal …
diversity, and disease. The path from the first draft sequence to our nascent era of personal …
Sequencing technologies—the next generation
ML Metzker - Nature reviews genetics, 2010 - nature.com
Demand has never been greater for revolutionary technologies that deliver fast, inexpensive
and accurate genome information. This challenge has catalysed the development of next …
and accurate genome information. This challenge has catalysed the development of next …
Pan-cancer analysis of whole genomes
Nature, 2020 - nature.com
Cancer is driven by genetic change, and the advent of massively parallel sequencing has
enabled systematic documentation of this variation at the whole-genome scale,–. Here we …
enabled systematic documentation of this variation at the whole-genome scale,–. Here we …
An integrated map of structural variation in 2,504 human genomes
Structural variants are implicated in numerous diseases and make up the majority of varying
nucleotides among human genomes. Here we describe an integrated set of eight structural …
nucleotides among human genomes. Here we describe an integrated set of eight structural …
BBMerge–accurate paired shotgun read merging via overlap
B Bushnell, J Rood, E Singer - PloS one, 2017 - journals.plos.org
Merging paired-end shotgun reads generated on high-throughput sequencing platforms can
substantially improve various subsequent bioinformatics processes, including genome …
substantially improve various subsequent bioinformatics processes, including genome …
The MIQE Guidelines: Minimum Information for Publication of Quantitative Real-Time PCR Experiments
Background: Currently, a lack of consensus exists on how best to perform and interpret
quantitative real-time PCR (qPCR) experiments. The problem is exacerbated by a lack of …
quantitative real-time PCR (qPCR) experiments. The problem is exacerbated by a lack of …
DELLY: structural variant discovery by integrated paired-end and split-read analysis
Motivation: The discovery of genomic structural variants (SVs) at high sensitivity and
specificity is an essential requirement for characterizing naturally occurring variation and for …
specificity is an essential requirement for characterizing naturally occurring variation and for …
Towards population-scale long-read sequencing
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 …
Accurate whole human genome sequencing using reversible terminator chemistry
DR Bentley, S Balasubramanian, HP Swerdlow… - nature, 2008 - nature.com
DNA sequence information underpins genetic research, enabling discoveries of important
biological or medical benefit. Sequencing projects have traditionally used long (400–800 …
biological or medical benefit. Sequencing projects have traditionally used long (400–800 …
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 …