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Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains
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Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains

Geisheker, Madeleine

NIMH Data Repositories 2022

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Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders
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Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

Guo, Hui ; Eichler, Evan E.

NIMH Data Repositories 2019

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3
Demo dataset for diploid genome assembly pipeline
Demo dataset for diploid genome assembly pipeline
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Demo dataset for diploid genome assembly pipeline

Ebert, Peter ; Porubsky, David ; Eichler, Evan E. ; Marschall, Tobias

Zenodo 2020

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4
Inversion polymorphism in a complete human genome assembly
Inversion polymorphism in a complete human genome assembly
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Inversion polymorphism in a complete human genome assembly

Eichler, Evan E. ; Harvey, William T. ; Rozanski, Allison N. ; Ebler, Jana ; Höps, Wolfram ; Hufsah Ashraf ; Hasenfeld, Patrick ; Paten, Benedict ; Sanders, Ashley D. ; Marschall, Tobias ; Korbel, Jan O. ; Eichler, Evan E.

Zenodo 2023

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5
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
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Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Wang, Tianyun

NIMH Data Repositories 2020

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6
Additional file 2 of Inversion polymorphism in a complete human genome assembly
Additional file 2 of Inversion polymorphism in a complete human genome assembly
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Additional file 2 of Inversion polymorphism in a complete human genome assembly

Porubsky, David ; Harvey, William T. ; Rozanski, Allison N. ; Ebler, Jana ; Höps, Wolfram ; Ashraf, Hufsah ; Hasenfeld, Patrick ; Paten, Benedict ; Sanders, Ashley D. ; Marschall, Tobias ; Korbel, Jan O. ; Eichler, Evan E.

figshare 2023

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7
Resolution of structural variation in diverse mouse genomes reveals chromatin remodeling due to transposable elements
Resolution of structural variation in diverse mouse genomes reveals chromatin remodeling due to transposable elements
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Resolution of structural variation in diverse mouse genomes reveals chromatin remodeling due to transposable elements

Ferraj, Ardian ; Audano, Peter A. ; Balachandran, Parithi ; Czechanski, Anne ; Flores, Jacob I. ; Radecki, Alexander A. ; Mosur, Varun ; Gordon, David S. ; Walawalkar, Isha A. ; Eichler, Evan E. ; Reinholdt, Laura G. ; Beck, Christine R.

Zenodo 2023

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8
Additional file 2 of Characterization of large-scale genomic differences in the first complete human genome
Additional file 2 of Characterization of large-scale genomic differences in the first complete human genome
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Additional file 2 of Characterization of large-scale genomic differences in the first complete human genome

Yang, Xiangyu ; Wang, Xuankai ; Zou, Yawen ; Zhang, Shilong ; Xia, Manying ; Fu, Lianting ; Vollger, Mitchell R. ; Chen, Nae-Chyun ; Taylor, Dylan J. ; Harvey, William T. ; Logsdon, Glennis A. ; Meng, Dan ; Shi, Junfeng ; McCoy, Rajiv C. ; Schatz, Michael C. ; Li, Weidong ; Eichler, Evan E. ; Lu, Qing ; Mao, Yafei

figshare 2023

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9
Gaps and complex structurally variant loci in phased genome assemblies
Gaps and complex structurally variant loci in phased genome assemblies
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Gaps and complex structurally variant loci in phased genome assemblies

Eichler, Evan E. ; Vollger, Mitchell R. ; Harvey, William T. ; Rozanski, Allison N. ; Ebert, Peter ; Hickey, Glenn ; Hasenfeld, Patrick ; Sanders, Ashley D. ; Stober, Catherine ; Korbel, Jan O. ; Paten, Benedict ; Marschall, Tobias ; Eichler, Evan E.

Zenodo 2022

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10
Preliminary assemblies of the three-generational pedigree of African-American ancestry
Preliminary assemblies of the three-generational pedigree of African-American ancestry
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Preliminary assemblies of the three-generational pedigree of African-American ancestry

Cechova, Monika ; Koren, Sergey ; Lucas, Julian K. ; Mari, Rebecca Serra ; Mobin Asri ; Porubsky, David ; Eizenga, Jordan M. ; McNulty, Brandy ; Bzikadze, Andrey ; Markovic, Christopher ; Potapova, Tamara ; Gerton, Jennifer L. ; Pevzner, Pavel A. ; Eichler, Evan E. ; Paten, Benedict ; Phillippy, Adam M. ; Wang, Ting ; Stitziel, Nathan O. ; Fulton, Robert S. ; Marschall, Tobias ; Miga, Karen H.

Zenodo 2023

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