Search Results - "Ochoa, Idoia"
-
1
Moss enables high sensitivity single-nucleotide variant calling from multiple bulk DNA tumor samples
Published in Nature communications (13-04-2021)“…Intra-tumor heterogeneity renders the identification of somatic single-nucleotide variants (SNVs) a challenging problem. In particular, low-frequency SNVs are…”
Get full text
Journal Article -
2
SPRING: a next-generation compressor for FASTQ data
Published in Bioinformatics (01-08-2019)“…Abstract Motivation High-Throughput Sequencing technologies produce huge amounts of data in the form of short genomic reads, associated quality values and read…”
Get full text
Journal Article -
3
iDoComp: a compression scheme for assembled genomes
Published in Bioinformatics (Oxford, England) (01-03-2015)“…With the release of the latest next-generation sequencing (NGS) machine, the HiSeq X by Illumina, the cost of sequencing a Human has dropped to a mere $4000…”
Get full text
Journal Article -
4
Phertilizer: Growing a clonal tree from ultra-low coverage single-cell DNA sequencing of tumors
Published in PLoS computational biology (11-10-2023)“…Emerging ultra-low coverage single-cell DNA sequencing (scDNA-seq) technologies have enabled high resolution evolutionary studies of copy number aberrations…”
Get full text
Journal Article -
5
MassComp, a lossless compressor for mass spectrometry data
Published in BMC bioinformatics (01-07-2019)“…Mass Spectrometry (MS) is a widely used technique in biology research, and has become key in proteomics and metabolomics analyses. As a result, the amount of…”
Get full text
Journal Article -
6
Genomic Data Compression
Published in Annual review of biomedical data science (20-07-2019)“…Recently, there has been growing interest in genome sequencing, driven by advances in sequencing technology, in terms of both efficiency and affordability…”
Get full text
Journal Article -
7
Single-cell transcriptional profile of CD34+ hematopoietic progenitor cells from del(5q) myelodysplastic syndromes and impact of lenalidomide
Published in Nature communications (20-06-2024)“…While myelodysplastic syndromes with del(5q) (del(5q) MDS) comprises a well-defined hematological subgroup, the molecular basis underlying its origin remains…”
Get full text
Journal Article -
8
Application of Graph Models to the Identification of Transcriptomic Oncometabolic Pathways in Human Hepatocellular Carcinoma
Published in Biomolecules (Basel, Switzerland) (03-06-2024)“…Whole-tissue transcriptomic analyses have been helpful to characterize molecular subtypes of hepatocellular carcinoma (HCC). Metabolic subtypes of human HCC…”
Get full text
Journal Article -
9
SimiC enables the inference of complex gene regulatory dynamics across cell phenotypes
Published in Communications biology (12-04-2022)“…Single-cell RNA-Sequencing has the potential to provide deep biological insights by revealing complex regulatory interactions across diverse cell phenotypes at…”
Get full text
Journal Article -
10
DeepZip: Lossless Data Compression Using Recurrent Neural Networks
Published in 2019 Data Compression Conference (DCC) (01-03-2019)“…Sequential data is being generated at an unprecedented pace in various forms, including text and genomic data. This creates the need for efficient compression…”
Get full text
Conference Proceeding -
11
VEF: a variant filtering tool based on ensemble methods
Published in Bioinformatics (15-04-2020)“…Abstract Motivation Variants identified by current genomic analysis pipelines contain many incorrectly called variants. These can be potentially eliminated by…”
Get full text
Journal Article -
12
GPress: a framework for querying general feature format (GFF) files and expression files in a compressed form
Published in Bioinformatics (Oxford, England) (15-09-2020)“…Sequencing data are often summarized at different annotation levels for further analysis, generally using the general feature format (GFF) or its descendants,…”
Get full text
Journal Article -
13
FaStore: a space-saving solution for raw sequencing data
Published in Bioinformatics (15-08-2018)“…Abstract Motivation The affordability of DNA sequencing has led to the generation of unprecedented volumes of raw sequencing data. These data must be stored,…”
Get full text
Journal Article -
14
mspack: efficient lossless and lossy mass spectrometry data compression
Published in Bioinformatics (Oxford, England) (05-11-2021)“…Abstract Motivation Mass spectrometry (MS) data, used for proteomics and metabolomics analyses, have seen considerable growth in the last years. Aiming at…”
Get full text
Journal Article -
15
METHCOMP: a special purpose compression platform for DNA methylation data
Published in Bioinformatics (01-08-2018)“…Abstract Motivation DNA methylation is one of the most important epigenetic mechanisms in cells that exhibits a significant role in controlling gene…”
Get full text
Journal Article -
16
Effect of lossy compression of quality scores on variant calling
Published in Briefings in bioinformatics (01-03-2017)“…Abstract Recent advancements in sequencing technology have led to a drastic reduction in genome sequencing costs. This development has generated an…”
Get full text
Journal Article -
17
Denoising of Aligned Genomic Data
Published in Scientific reports (21-10-2019)“…Noise in genomic sequencing data is known to have effects on various stages of genomic data analysis pipelines. Variant identification is an important step of…”
Get full text
Journal Article -
18
Unsupervised ensemble learning for genome sequencing
Published in Pattern recognition (01-09-2022)“…•The variant calling step in next generation sequencing technologies is formulated as a classification problem.•An unsupervised ensemble classification method…”
Get full text
Journal Article -
19
JIND: joint integration and discrimination for automated single-cell annotation
Published in Bioinformatics (Oxford, England) (28-04-2022)“…Abstract Motivation An important step in the transcriptomic analysis of individual cells involves manually determining the cellular identities. To ease this…”
Get full text
Journal Article -
20
QVZ: lossy compression of quality values
Published in Bioinformatics (01-10-2015)“…Recent advancements in sequencing technology have led to a drastic reduction in the cost of sequencing a genome. This has generated an unprecedented amount of…”
Get full text
Journal Article