Research
Highlighted
![STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci](https://www.medrxiv.org/content/medrxiv/early/2024/05/21/2024.05.21.24307682/F4.large.jpg)
STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci
Cold Spring Harbor Laboratory
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21 May 2024
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doi:10.1101/2024.05.21.24307682
All
2024
![A familial, telomere-to-telomere reference for human <i>de novo</i> mutation and recombination from a four-generation pedigree](https://www.biorxiv.org/content/biorxiv/early/2024/08/05/2024.08.05.606142/F1.large.jpg)
A familial, telomere-to-telomere reference for human de novo mutation and recombination from a four-generation pedigree
Cold Spring Harbor Laboratory
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05 Aug 2024
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doi:10.1101/2024.08.05.606142
![TRGT-denovo: accurate detection of <i>de novo</i> tandem repeat mutations](https://www.biorxiv.org/content/biorxiv/early/2024/07/19/2024.07.16.600745/F3.large.jpg)
TRGT-denovo: accurate detection of de novo tandem repeat mutations
Cold Spring Harbor Laboratory
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19 Jul 2024
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doi:10.1101/2024.07.16.600745
![Spotted with AuDHD: Seeing Yourself in a Mentor Who Sees You.](https://upload.wikimedia.org/wikipedia/commons/4/4e/Pastel_Neurodiversity_Symbol.png)
Spotted with AuDHD: Seeing Yourself in a Mentor Who Sees You.
EdArXiv
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01 Jun 2024
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doi:10.35542/osf.io/pys86
![STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci](https://www.medrxiv.org/content/medrxiv/early/2024/05/21/2024.05.21.24307682/F4.large.jpg)
STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci
Cold Spring Harbor Laboratory
·
21 May 2024
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doi:10.1101/2024.05.21.24307682
![Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation](https://www.medrxiv.org/content/medrxiv/early/2024/03/07/2024.03.05.24303792/F5.large.jpg)
Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation
Cold Spring Harbor Laboratory
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07 Mar 2024
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doi:10.1101/2024.03.05.24303792
![Sequencing and characterizing short tandem repeats in the human genome](https://media.springernature.com/full/springer-static/image/art%3A10.1038%2Fs41576-024-00692-3/MediaObjects/41576_2024_692_Fig1_HTML.png?as=webp)
Sequencing and characterizing short tandem repeats in the human genome
Nature Reviews Genetics
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16 Feb 2024
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doi:10.1038/s41576-024-00692-3
![Characterization and visualization of tandem repeats at genome scale](https://media.springernature.com/full/springer-static/image/art%3A10.1038%2Fs41587-023-02057-3/MediaObjects/41587_2023_2057_Fig1_HTML.png?as=webp)
Characterization and visualization of tandem repeats at genome scale
Nature Biotechnology
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02 Jan 2024
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doi:10.1038/s41587-023-02057-3
2022
![STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel loci](https://media.springernature.com/full/springer-static/image/art%3A10.1186%2Fs13059-022-02826-4/MediaObjects/13059_2022_2826_Fig1_HTML.png?as=webp)
STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel loci
Genome Biology
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14 Dec 2022
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doi:10.1186/s13059-022-02826-4
2021
![Effective variant filtering and expected candidate variant yield in studies of rare human disease](https://media.springernature.com/full/springer-static/image/art%3A10.1038%2Fs41525-021-00227-3/MediaObjects/41525_2021_227_Fig2_HTML.png?as=webp)
Effective variant filtering and expected candidate variant yield in studies of rare human disease
npj Genomic Medicine
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15 Jul 2021
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doi:10.1038/s41525-021-00227-3
2019
Bionitio: demonstrating and facilitating best practices for bioinformatics command-line software
GigaScience
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01 Sep 2019
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doi:10.1093/gigascience/giz109
![Pooled-parent exome sequencing to prioritise <i>de novo</i> variants in genetic disease](https://www.biorxiv.org/content/biorxiv/early/2019/04/07/601740/F1.large.jpg?width=800&height=600&carousel=1)
Pooled-parent exome sequencing to prioritise de novo variants in genetic disease
Cold Spring Harbor Laboratory
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07 Apr 2019
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doi:10.1101/601740
2018
![STRetch: detecting and discovering pathogenic short tandem repeat expansions](/images/STRetch.jpg)
STRetch: detecting and discovering pathogenic short tandem repeat expansions
Genome Biology
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21 Aug 2018
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doi:10.1186/s13059-018-1505-2
2017
![Elegant SciPy](/images/elegantscipy-cover.jpg)
Elegant SciPy
O'Reilly Media, Inc.
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08 Nov 2017
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isbn:9781491922941
![A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data](/images/ejhg2017123f1.jpg)
A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data
European Journal of Human Genetics
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23 Aug 2017
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doi:10.1038/ejhg.2017.123
Melbourne Genomics variant prioritisation
2016
Ten Simple Rules for a Bioinformatics Journal Club
PLOS Computational Biology
·
28 Jan 2016
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doi:10.1371/journal.pcbi.1004526
2015
![Cpipe: a shared variant detection pipeline designed for diagnostic settings](https://media.springernature.com/full/springer-static/image/art%3A10.1186%2Fs13073-015-0191-x/MediaObjects/13073_2015_191_Fig4_HTML.gif?as=webp)
Cpipe: a shared variant detection pipeline designed for diagnostic settings
Genome Medicine
·
10 Jul 2015
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doi:10.1186/s13073-015-0191-x
2014
![Data Interlocking: Coupling Analytics to the Data](/images/Data-Interlocking.png)
Data Interlocking: Coupling Analytics to the Data
2014 IEEE/ACM 7th International Conference on Utility and Cloud Computing
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01 Dec 2014
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doi:10.1109/ucc.2014.113
![SRST2: Rapid genomic surveillance for public health and hospital microbiology labs](https://media.springernature.com/lw685/springer-static/image/art%3A10.1186%2Fs13073-014-0090-6/MediaObjects/13073_2014_Article_90_Fig1_HTML.jpg?)
SRST2: Rapid genomic surveillance for public health and hospital microbiology labs
Genome Medicine
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20 Nov 2014
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doi:10.1186/s13073-014-0090-6
Ten Simple Rules for Writing a PLOS Ten Simple Rules Article
PLoS Computational Biology
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23 Oct 2014
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doi:10.1371/journal.pcbi.1003858
2012
Development of Transgenic Mice Containing an Introduced Stop Codon on the Human Methylmalonyl-CoA Mutase Locus
PLoS ONE
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14 Sep 2012
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doi:10.1371/journal.pone.0044974