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Genomics Articles

Recent genomic discoveries and advances

Genomics articles highlighting breakthroughs and advances in bioinformatics and clinical research from Illumina scientists and thought leaders

Discoveries by Illumina Scientists

Identifying Genomic Regions with High Quality Single Nucleotide Variant Calling

We can use aggregated alignment metrics from populations to predict how well we can call variants in any sample. This empirical approach finds very high quality regions and outperforms reference-based methods.

Data Solution Empowering Population Genomics Research

The Illumina Connected Analytics (ICA) platform is the foundation on which a customized genomics analysis environment is built, managing and processing large amounts of heterogenous data sets.

Accurate and Efficient Calling of Small and Large Variants from PopGen Datasets Using the DRAGEN Bio-IT Platform

The DRAGEN platform calls both small and large variants from population genetics studies with high precision and speed.

DRAGEN Wins at PrecisionFDA Truth Challenge V2 Showcase Accuracy Gains from Alt-aware Mapping and Graph Reference Genomes

DRAGEN recently won the PrecisionFDA Truth Challenge V2 contest for Illumina reads in the Difficult-to-Map and All-Benchmark Regions categories.

Spinal Muscular Atrophy Diagnosis and Carrier Screening from Whole Genome Sequencing Data

SMNCopyNumberCaller enables accurate copy number calling of the highly similar SMN1 and SMN2 for spinal muscular atrophy diagnosis/carrier screening.

Predicting the Clinical Impact of Human Mutation with Deep Neural Networks

The Illumina team developed deep neural network algorithm, PrimateAI, to predict the clinical impact of human missense mutations.

Predicting Splicing from Primary Sequence with Deep Learning

SpliceAI, a 32-layer deep neural network, predicts splicing from pre-mRNA sequences and identifies cryptic splice variants in rare disease patients.

REViewer: A Method for Visualizing Alignments of Short Reads in Regions Containing Long Repeat Expansions

REViewer is a computational method for visualization of sequencing data in genomic regions containing long repeat expansions.

Accurate Genotyping of Structural Variant Using Graph Model and Population Information

Paragraph is a graph aligner and variant caller that can accurately genotype known structural variants using the aligned sequence reads.

Cyrius: Accurate CYP2D6 Genotyping Using Whole Genome Sequencing Data

CYP2D6 metabolizes 21% of clinically used drugs. Cyrius resolves common SVs and sequence homology to paralog and genotypes CYP2D6 with 99.3% accuracy.