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Using beta-binomial regression for high-precision differential methylation analysis in multifactor whole-genome bisulfite sequencing experiments

BMC bioinformatics, 2014-06, Vol.15 (1), p.215-215, Article 215

2014

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Paragraph: a graph-based structural variant genotyper for short-read sequence data

Genome Biology, 2019-12, Vol.20 (1), p.291-291, Article 291

2019

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

Genome Biology, 2020-04, Vol.21 (1), p.102-14, Article 102

2020

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Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease

American journal of human genetics, 2019-06, Vol.104 (6), p.1116-1126

2019

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The Architecture of a Scrambled Genome Reveals Massive Levels of Genomic Rearrangement during Development

Cell, 2014-08, Vol.158 (5), p.1187-1198

2014

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A Poly(vinyl alcohol) Coating Method for a Tilted‐Fiber Bragg‐Grating‐Assisted Fiber Hygrometer

Physica status solidi. PSS-RRL. Rapid research letters, 2020-12, Vol.14 (12), p.n/a

2020

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RExPRT: a machine learning tool to predict pathogenicity of tandem repeat loci

Genome Biology, 2024-01, Vol.25 (1), p.39-22, Article 39

2024

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A deep population reference panel of tandem repeat variation

Nature communications, 2023-10, Vol.14 (1), p.6711-6711, Article 6711

2023

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Molecular characterization of the transition from acute to chronic kidney injury following ischemia/reperfusion

JCI insight, 2017-09, Vol.2 (18)

2017

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An Epigenetic Memory of Pregnancy in the Mouse Mammary Gland

Cell reports (Cambridge), 2015-05, Vol.11 (7), p.1102-1109

2015

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Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions

Genome medicine, 2021-08, Vol.13 (1), p.126-126, Article 126

2021

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P819: Genome-wide resolution of highly homologous genes using long-read PacBio HiFi sequencing

Genetics in Medicine Open, 2024, Vol.2, p.101730, Article 101730

2024

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REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats

Genome medicine, 2022-08, Vol.14 (1), p.84-84, Article 84

2022

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

Scientific data, 2020-09, Vol.7 (1), p.294-294, Article 294

2020

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lncRNA requirements for mouse acute myeloid leukemia and normal differentiation

eLife, 2017-09, Vol.6

2017

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TRGT-ing the dark genome to accurately characterize tandem repeats at scale

Nature biotechnology, 2024-01

2024

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P478: Simultaneous analysis of 50+ different repeat expansions with twist target enrichment and PacBio HiFi sequencing

Genetics in Medicine Open, 2023, Vol.1 (1), p.100525, Article 100525

2023

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O36: Long-read genome sequencing in unsolved rare genetic diseases: Preliminary experiences from the Care4Rare Canada Consortium

Genetics in Medicine Open, 2024, Vol.2, p.101474, Article 101474

2024

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P293: Long read sequencing analysis of 120 samples with known and challenging-to-detect clinical variants

Genetics in Medicine Open, 2024, Vol.2, p.101189, Article 101189

2024

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Correction to: Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions

Genome medicine, 2021-09, Vol.13 (1), p.151-151, Article 151

2021

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P223: Multiplex detection and quantification of neurological disease-associated repeat expansions using the PacBio Sequel IIe platform

Genetics in Medicine Open, 2024, Vol.2, p.101120, Article 101120

2024

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Characterizing a complex CT-rich haplotype in intron 4 of SNCA using large-scale targeted amplicon long-read sequencing

NPJ Parkinson's Disease, 2024-07, Vol.10 (1), p.136-8, Article 136

2024

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Selective fiber optic TFBG-assisted biosensors featuring functional coatings

Sensors and actuators. B, Chemical, 2023-06, Vol.384, p.133618, Article 133618

2023

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Modeling runtime enforcement with mandatory results automata

International journal of information security, 2015-02, Vol.14 (1), p.47-60

2015

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Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications

Nature reviews. Genetics, 2024-07, Vol.25 (7), p.476-499

2024

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Using beta-binomial regression for high-precision differential methylation analysis in multifactor whole-genome bisulfite sequencing experiments

Paragraph: a graph-based structural variant genotyper for short-read sequence data

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

Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease

The Architecture of a Scrambled Genome Reveals Massive Levels of Genomic Rearrangement during Development

A Poly(vinyl alcohol) Coating Method for a Tilted‐Fiber Bragg‐Grating‐Assisted Fiber Hygrometer

RExPRT: a machine learning tool to predict pathogenicity of tandem repeat loci

A deep population reference panel of tandem repeat variation

Molecular characterization of the transition from acute to chronic kidney injury following ischemia/reperfusion

An Epigenetic Memory of Pregnancy in the Mouse Mammary Gland

Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions

P819: Genome-wide resolution of highly homologous genes using long-read PacBio HiFi sequencing

REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats

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

lncRNA requirements for mouse acute myeloid leukemia and normal differentiation

TRGT-ing the dark genome to accurately characterize tandem repeats at scale

P478: Simultaneous analysis of 50+ different repeat expansions with twist target enrichment and PacBio HiFi sequencing

O36: Long-read genome sequencing in unsolved rare genetic diseases: Preliminary experiences from the Care4Rare Canada Consortium

P293: Long read sequencing analysis of 120 samples with known and challenging-to-detect clinical variants

Correction to: Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions

P223: Multiplex detection and quantification of neurological disease-associated repeat expansions using the PacBio Sequel IIe platform

Characterizing a complex CT-rich haplotype in intron 4 of SNCA using large-scale targeted amplicon long-read sequencing

Selective fiber optic TFBG-assisted biosensors featuring functional coatings

Modeling runtime enforcement with mandatory results automata

Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications

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