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Authors: Evan E. Eichler
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Journal Article

Identification and annotation of centromeric hypomethylated regions with CDR-Finder Open Access

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Francesco Kumara Mastrorosa and others
Bioinformatics, Volume 40, Issue 12, December 2024, btae733, https://doi.org/10.1093/bioinformatics/btae733
Published: 09 December 2024
Journal Article

Effects of parental age and polymer composition on short tandem repeat de novo mutation rates Open Access

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Michael E Goldberg and others
Genetics, Volume 226, Issue 4, April 2024, iyae013, https://doi.org/10.1093/genetics/iyae013
Published: 31 January 2024
Journal Article

GAVISUNK: genome assembly validation via inter-SUNK distances in Oxford Nanopore reads Open Access

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Philip C Dishuck and others
Bioinformatics, Volume 39, Issue 1, January 2023, btac714, https://doi.org/10.1093/bioinformatics/btac714
Published: 02 November 2022
Journal Article

Targeted Long‐Read Sequencing Identifies a Retrotransposon Insertion as a Cause of Altered GNAS Exon A/B Methylation in a Family With Autosomal Dominant Pseudohypoparathyroidism Type 1b (PHP1B) Free

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Danny E Miller and others
Journal of Bone and Mineral Research, Volume 37, Issue 9, 1 September 2022, Pages 1711–1719, https://doi.org/10.1002/jbmr.4647
Published: 10 July 2022
Journal Article

StainedGlass: interactive visualization of massive tandem repeat structures with identity heatmaps Free

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Mitchell R Vollger and others
Bioinformatics, Volume 38, Issue 7, March 2022, Pages 2049–2051, https://doi.org/10.1093/bioinformatics/btac018
Published: 10 January 2022
Journal Article

Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy Free

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Philip K Ahring and others
Brain, Volume 145, Issue 4, April 2022, Pages 1299–1309, https://doi.org/10.1093/brain/awab391
Published: 11 October 2021
Journal Article

Alpha Satellite Insertion Close to an Ancestral Centromeric Region Open Access

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Giuliana Giannuzzi and others
Molecular Biology and Evolution, Volume 38, Issue 12, December 2021, Pages 5576–5587, https://doi.org/10.1093/molbev/msab244
Published: 31 August 2021
Journal Article

Mako: A Graph-Based Pattern Growth Approach to Detect Complex Structural Variants Open Access

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Jiadong Lin and others
Genomics, Proteomics & Bioinformatics, Volume 20, Issue 1, February 2022, Pages 205–218, https://doi.org/10.1016/j.gpb.2021.03.007
Published: 03 July 2021
Journal Article

Strand-seq enables reliable separation of long reads by chromosome via expectation maximization Open Access

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Maryam Ghareghani and others
Bioinformatics, Volume 34, Issue 13, July 2018, Pages i115–i123, https://doi.org/10.1093/bioinformatics/bty290
Published: 27 June 2018
Journal Article

A 3-way hybrid approach to generate a new high-quality chimpanzee reference genome (Pan_tro_3.0) Open Access

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Lukas F K Kuderna and others
GigaScience, Volume 6, Issue 11, November 2017, gix098, https://doi.org/10.1093/gigascience/gix098
Published: 30 October 2017
Journal Article

Centromere Destiny in Dicentric Chromosomes: New Insights from the Evolution of Human Chromosome 2 Ancestral Centromeric Region Free

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Giorgia Chiatante and others
Molecular Biology and Evolution, Volume 34, Issue 7, July 2017, Pages 1669–1681, https://doi.org/10.1093/molbev/msx108
Published: 15 March 2017
Journal Article

denovo-db: a compendium of human de novo variants Open Access

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Tychele N. Turner and others
Nucleic Acids Research, Volume 45, Issue D1, January 2017, Pages D804–D811, https://doi.org/10.1093/nar/gkw865
Published: 05 October 2016
Journal Article

Large Deletions at the SHOX Locus in the Pseudoautosomal Region Are Associated with Skeletal Atavism in Shetland Ponies Open Access

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Nima Rafati and others
G3 Genes|Genomes|Genetics, Volume 6, Issue 7, 1 July 2016, Pages 2213–2223, https://doi.org/10.1534/g3.116.029645
Published: 01 July 2016
Journal Article

An Incomplete Understanding of Human Genetic Variation Free

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John Huddleston and Evan E Eichler
Genetics, Volume 202, Issue 4, 1 April 2016, Pages 1251–1254, https://doi.org/10.1534/genetics.115.180539
Published: 31 March 2016
Journal Article

TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function Free

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Wei Ba and others
Human Molecular Genetics, Volume 25, Issue 5, 1 March 2016, Pages 892–902, https://doi.org/10.1093/hmg/ddv618
Published: 31 December 2015
Journal Article

mrsFAST-Ultra: a compact, SNP-aware mapper for high performance sequencing applications Open Access

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Faraz Hach and others
Nucleic Acids Research, Volume 42, Issue W1, 1 July 2014, Pages W494–W500, https://doi.org/10.1093/nar/gku370
Published: 08 May 2014
Journal Article

An inherited duplication at the gene p21 Protein-Activated Kinase 7 (PAK7) is a risk factor for psychosis Open Access

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Derek W. Morris and others
Human Molecular Genetics, Volume 23, Issue 12, 15 June 2014, Pages 3316–3326, https://doi.org/10.1093/hmg/ddu025
Published: 28 January 2014
Journal Article

ORMAN: Optimal resolution of ambiguous RNA-Seq multimappings in the presence of novel isoforms Free

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Phuong Dao and others
Bioinformatics, Volume 30, Issue 5, March 2014, Pages 644–651, https://doi.org/10.1093/bioinformatics/btt591
Published: 15 October 2013
Journal Article

Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS) Get access

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Olena Korvatska and others
Human Molecular Genetics, Volume 22, Issue 16, 15 August 2013, Pages 3259–3268, https://doi.org/10.1093/hmg/ddt180
Published: 16 April 2013
Journal Article

Global increases in both common and rare copy number load associated with autism Open Access

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Santhosh Girirajan and others
Human Molecular Genetics, Volume 22, Issue 14, 15 July 2013, Pages 2870–2880, https://doi.org/10.1093/hmg/ddt136
Published: 27 March 2013