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 …

Navigating bottlenecks and trade-offs in genomic data analysis

B Berger, YW Yu - Nature Reviews Genetics, 2023 - nature.com
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 …

Sequence Alignment/Map format: a comprehensive review of approaches and applications

Y Liu, X Shen, Y Gong, Y Liu, B Song… - Briefings in …, 2023 - academic.oup.com
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 …

SPRING: a next-generation compressor for FASTQ data

S Chandak, K Tatwawadi, I Ochoa, M Hernaez… - …, 2019 - academic.oup.com
Abstract Motivation High-Throughput Sequencing technologies produce huge amounts of
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

M Goyal, K Tatwawadi, S Chandak… - 2021 data compression …, 2021 - ieeexplore.ieee.org
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 …

Effect of lossy compression of quality scores on variant calling

I Ochoa, M Hernaez, R Goldfeder… - Briefings in …, 2017 - academic.oup.com
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 …

Genomic data compression

M Hernaez, D Pavlichin, T Weissman… - Annual Review of …, 2019 - annualreviews.org
Recently, there has been growing interest in genome sequencing, driven by advances in
sequencing technology, in terms of both efficiency and affordability. These developments …

FaStore: a space-saving solution for raw sequencing data

Ł Roguski, I Ochoa, M Hernaez, S Deorowicz - Bioinformatics, 2018 - academic.oup.com
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 …

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 …

Compression of genomic sequencing reads via hash-based reordering: algorithm and analysis

S Chandak, K Tatwawadi, T Weissman - Bioinformatics, 2018 - academic.oup.com
Abstract Motivation New Generation Sequencing (NGS) technologies for genome
sequencing produce large amounts of short genomic reads per experiment, which are highly …