Towards precision medicine
EA Ashley - Nature Reviews Genetics, 2016 - nature.com
There is great potential for genome sequencing to enhance patient care through improved
diagnostic sensitivity and more precise therapeutic targeting. To maximize this potential …
diagnostic sensitivity and more precise therapeutic targeting. To maximize this potential …
Navigating bottlenecks and trade-offs in genomic data analysis
Genome sequencing and analysis allow researchers to decode the functional information
hidden in DNA sequences as well as to study cell to cell variation within a cell population …
hidden in DNA sequences as well as to study cell to cell variation within a cell population …
Sequence Alignment/Map format: a comprehensive review of approaches and applications
Abstract The Sequence Alignment/Map (SAM) format file is the text file used to record
alignment information. Alignment is the core of sequencing analysis, and downstream tasks …
alignment information. Alignment is the core of sequencing analysis, and downstream tasks …
SPRING: a next-generation compressor for FASTQ data
Abstract Motivation High-Throughput Sequencing technologies produce huge amounts of
data in the form of short genomic reads, associated quality values and read identifiers …
data in the form of short genomic reads, associated quality values and read identifiers …
DZip: Improved general-purpose loss less compression based on novel neural network modeling
We consider lossless compression based on statistical data modeling followed by prediction-
based encoding, where an accurate statistical model for the input data leads to substantial …
based encoding, where an accurate statistical model for the input data leads to substantial …
Effect of lossy compression of quality scores on variant calling
Recent advancements in sequencing technology have led to a drastic reduction in genome
sequencing costs. This development has generated an unprecedented amount of data that …
sequencing costs. This development has generated an unprecedented amount of data that …
Genomic data compression
Recently, there has been growing interest in genome sequencing, driven by advances in
sequencing technology, in terms of both efficiency and affordability. These developments …
sequencing technology, in terms of both efficiency and affordability. These developments …
FaStore: a space-saving solution for raw sequencing data
Motivation The affordability of DNA sequencing has led to the generation of unprecedented
volumes of raw sequencing data. These data must be stored, processed and transmitted …
volumes of raw sequencing data. These data must be stored, processed and transmitted …
FQSqueezer: k-mer-based compression of sequencing data
S Deorowicz - Scientific reports, 2020 - nature.com
The amount of data produced by modern sequencing instruments that needs to be stored is
huge. Therefore it is not surprising that a lot of work has been done in the field of specialized …
huge. Therefore it is not surprising that a lot of work has been done in the field of specialized …
Compression of genomic sequencing reads via hash-based reordering: algorithm and analysis
Abstract Motivation New Generation Sequencing (NGS) technologies for genome
sequencing produce large amounts of short genomic reads per experiment, which are highly …
sequencing produce large amounts of short genomic reads per experiment, which are highly …