Illumina Publications

van Rheenen W, van der Spek R, Bakker M, et al.

Common and rare variant association analyses in Amyotrophic Lateral Sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

medRxiv 03.12.21253159

2021

Thornton CA, Mulqueen RM, Torkenczy KA, et al.

Spatially mapped single-cell chromatin accessibility

Nat Commun 12(1):1274

2021

Chen X, Shen F, Gonzaludo N, et al.

Cyrius: accurate CYP2D6 genotyping using whole-genome sequencing data

Pharmacogenomics J 21:251–261

2021

Moisse M, Zwamborn RAJ, van Vugt J, et al.

The Effect of SMN Gene Dosage on ALS Risk and Disease Severity

Ann Neurol 89(4):686-697

2021

Galson JD, Schaetzle S, Bashford-Rogers RJM, et al.

Deep Sequencing of B Cell Receptor Repertoires From COVID-19 Patients Reveals Strong Convergent Immune Signatures

Front Immunol 11:605170

2020

Cao J, O'Day DR, Pliner HA, et al.

A human cell atlas of fetal gene expression

Science 370(6518):eaba7721

2020

Domcke S, Hill AJ, Daza RM, et al.

A human cell atlas of fetal chromatin accessibility

Science 370(6518):eaba7612

2020

van Wietmarschen N, Sridharan S, Nathan WJ, et al.

Repeat expansions confer WRN dependence in microsatellite-unstable cancers

Nature 586(7828):292-298

2020

Fazal S, Danzi MC, Cintra VP, et al.

Large scale in silico characterization of repeat expansion variation in human genomes

Sci Data 7(1):294

2020

Cao J, Zhou W, Steemers F, Trapnell C, Shendure J

Sci-fate characterizes the dynamics of gene expression in single cells

Nat Biotechnol 38(8):980-988

2020

Trost B, Engchuan W, Nguyen CM, et al.

Genome-wide detection of tandem DNA repeats that are expanded in autism

Nature 586(7827):80-86

2020

Chua JPS, Go MK, Osothprarop T, et al.

Evolving a Thermostable Terminal Deoxynucleotidyl Transferase

ACS Synth Biol 9(7):1725-1735

2020

Munchel S, Rohrback S, Randise-Hinchliff C, et al.

Circulating transcripts in maternal blood reflect a molecular signature of early-onset preeclampsia

Sci Transl Med 12(550):eaaz0131

2020

Indhu-Shree Rajan-Babu, Junran Peng, Readman Chiu, et al.

Genome-Wide Sequencing as a First-Tier Screening Test for Short Tandem Repeat Expansions

bioRxiv 06.06.137356

2020

Dolzhenko E, Bennett MF, Richmond PA, et al.

ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data

Genome Biol 21(1):102

2020

Hodge RD, Miller JA, Novotny M, et al.

Transcriptomic evidence that von Economo neurons are regionally specialized extratelencephalic-projecting excitatory neurons

Nat Commun 11(1):1172

2020

Chen, X., Sanchis-Juan, A., French, C.E. et al.

Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data

Genet Med 22, 945–953

2020

Helman G, Lajoie BR, Crawford J, et al.

Genome sequencing in persistently unsolved white matter disorders

Ann Clin 7(1):144-152

2020

Srivatsan SR, McFaline-Figueroa JL, Ramani V, et al.

Massively multiplex chemical transcriptomics at single-cell resolution

Science 367(6473):45-51

2020

Ibanez K, Polke J, Hagelstrom T, et al.

Whole genome sequencing for diagnosis of neurological repeat expansion disorders

bioRxiv 11.06.371716

2020

Illumina Publications

Research published by Illumina scientists

Key peer-reviewed genomics publications showcasing research from Illumina scientists

Featured Publications

Common and rare variant association analyses in Amyotrophic Lateral Sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Spatially mapped single-cell chromatin accessibility

Cyrius: accurate CYP2D6 genotyping using whole-genome sequencing data

The Effect of SMN Gene Dosage on ALS Risk and Disease Severity

Deep Sequencing of B Cell Receptor Repertoires From COVID-19 Patients Reveals Strong Convergent Immune Signatures

A human cell atlas of fetal gene expression

A human cell atlas of fetal chromatin accessibility

Repeat expansions confer WRN dependence in microsatellite-unstable cancers

Large scale in silico characterization of repeat expansion variation in human genomes

Sci-fate characterizes the dynamics of gene expression in single cells

Genome-wide detection of tandem DNA repeats that are expanded in autism

Evolving a Thermostable Terminal Deoxynucleotidyl Transferase

Circulating transcripts in maternal blood reflect a molecular signature of early-onset preeclampsia

Genome-Wide Sequencing as a First-Tier Screening Test for Short Tandem Repeat Expansions

ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data

Transcriptomic evidence that von Economo neurons are regionally specialized extratelencephalic-projecting excitatory neurons

Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data

Genome sequencing in persistently unsolved white matter disorders

Massively multiplex chemical transcriptomics at single-cell resolution

Whole genome sequencing for diagnosis of neurological repeat expansion disorders

Illumina 파이낸스 솔루션

NextSeq 1000 & NextSeq 2000 Reagents

시퀀싱 플랫폼 비교 도구

Rethink what’s possible with DRAGEN analysis

시퀀싱 서비스

Do more, faster than ever

Learning about our own genomes through primates

Learning about our own genomes through primates

Learning about our own genomes through primates

Learning about our own genomes through primates

Learning about our own genomes through primates

Learning about our own genomes through primates

Learning about our own genomes through primates

This is the Genome Era.

This is the Genome Era.

This is the Genome Era.

This is the Genome Era.

This is the Genome Era.

This is the Genome Era.

This is the Genome Era.

Illumina DRAGEN v4.2

Illumina DRAGEN v4.2

Illumina DRAGEN v4.2

Illumina DRAGEN v4.2

Illumina DRAGEN v4.2

Illumina DRAGEN v4.2

TruSight Oncology 500 HRD

TruSight Oncology 500 HRD

TruSight Oncology 500 HRD

TruSight Oncology 500 HRD

TruSight Oncology 500 HRD

Analysis of microbiomes of an Amazonian community

Analysis of microbiomes of an Amazonian community

Analysis of microbiomes of an Amazonian community

Analysis of microbiomes of an Amazonian community

Analysis of microbiomes of an Amazonian community

Solutions for applied animal and plant genomics

Solutions for applied animal and plant genomics

Solutions for applied animal and plant genomics

Solutions for applied animal and plant genomics

Solutions for applied animal and plant genomics

Analysis of microbiomes of an Amazonian community

Analysis of microbiomes of an Amazonian community

Analysis of microbiomes of an Amazonian community

Analysis of microbiomes of an Amazonian community

Analysis of microbiomes of an Amazonian community

The future of clinical genomics is here

The future of clinical genomics is here

The future of clinical genomics is here

The future of clinical genomics is here

The future of clinical genomics is here

The future of clinical genomics is here

The future of clinical genomics is here

The future of clinical genomics is here

Greenwood Genetic Center: Answering the unanswered

Greenwood Genetic Center: Answering the unanswered

Greenwood Genetic Center: Answering the unanswered

Greenwood Genetic Center: Answering the unanswered

Greenwood Genetic Center: Answering the unanswered

The future of clinical genomics is here

The future of clinical genomics is here

The future of clinical genomics is here

The future of clinical genomics is here

Illumina Publications

Research published by Illumina scientists

Key peer-reviewed genomics publications showcasing research from Illumina scientists

Featured Publications