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

Nat Genet 53(12): 1636-1648

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

Spatially mapped single-cell chromatin accessibility

Nat Commun 12(1):1274

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

Cyrius: accurate CYP2D6 genotyping using whole-genome sequencing data

Pharmacogenomics J 21:251–261

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

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

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

A human cell atlas of fetal gene expression

Science 370(6518):eaba7721

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

A human cell atlas of fetal chromatin accessibility

Science 370(6518):eaba7612

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

Repeat expansions confer WRN dependence in microsatellite-unstable cancers

Nature 586(7828):292-298

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

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

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

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

Evolving a Thermostable Terminal Deoxynucleotidyl Transferase

ACS Synth Biol 9(7):1725-1735

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

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

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

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

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

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

Genome sequencing in persistently unsolved white matter disorders

Ann Clin 7(1):144-152

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

Massively multiplex chemical transcriptomics at single-cell resolution

Science 367(6473):45-51

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

Whole genome sequencing for diagnosis of neurological repeat expansion disorders

bioRxiv 11.06.371716

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

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Illumina Publications

Research published by Illumina scientists

Key peer-reviewed genomics publications showcasing research from Illumina scientists

Featured Publications