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Peter A Audano

Showing results (11-20 of 34) with videos related to

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American Journal of Medical Genetics. Part A|January 29, 2025
Phenotypic Expansion of Knobloch Syndrome Type 2 in an Individual With a De Novo PAK2 VariantElizabeth A Werren, Louisa Kalsner, Jessica M Ewald, et al.
Biorxiv : the Preprint Server for Biology|May 7, 2024
A <i>de novo</i> variant in <i>PAK2</i> detected in an individual with Knobloch type 2 syndromeElizabeth A Werren, Louisa Kalsner, Jessica Ewald, et al.
Nature Genetics|April 12, 2022
Pangenome-based genome inference allows efficient and accurate genotyping across a wide spectrum of variant classesJana Ebler, Peter Ebert, Wayne E Clarke, et al.
Cell Genomics|May 25, 2023
Resolution of structural variation in diverse mouse genomes reveals chromatin remodeling due to transposable elementsArdian Ferraj, Peter A Audano, Parithi Balachandran, et al.
HGG Advances|April 29, 2026
Diagnostic utility of clinical genome reanalysis in rare pediatric disorders using long-read sequencingElizabeth A Werren, Purva Vats, Gabriel E Rech, et al.
Cell|January 22, 2019
Characterizing the Major Structural Variant Alleles of the Human GenomePeter A Audano, Arvis Sulovari, Tina A Graves-Lindsay, et al.
Annals of Human Genetics|November 12, 2019
Improved assembly and variant detection of a haploid human genome using single-molecule, high-fidelity long readsMitchell R Vollger, Glennis A Logsdon, Peter A Audano, et al.
Nature Biotechnology|December 8, 2020
Fully phased human genome assembly without parental data using single-cell strand sequencing and long readsDavid Porubsky, Peter Ebert, Peter A Audano, et al.
American Journal of Human Genetics|March 15, 2022
Familial long-read sequencing increases yield of de novo mutationsMichelle D Noyes, William T Harvey, David Porubsky, et al.
American Journal of Human Genetics|March 31, 2021
Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologiesXuefang Zhao, Ryan L Collins, Wan-Ping Lee, et al.
Pageof 4

Showing results (11-20 of 34) with videos related to

Sort By:
Pageof 4
American Journal of Medical Genetics. Part A|January 29, 2025
Phenotypic Expansion of Knobloch Syndrome Type 2 in an Individual With a De Novo PAK2 VariantElizabeth A Werren, Louisa Kalsner, Jessica M Ewald, et al.
Biorxiv : the Preprint Server for Biology|May 7, 2024
A <i>de novo</i> variant in <i>PAK2</i> detected in an individual with Knobloch type 2 syndromeElizabeth A Werren, Louisa Kalsner, Jessica Ewald, et al.
Nature Genetics|April 12, 2022
Pangenome-based genome inference allows efficient and accurate genotyping across a wide spectrum of variant classesJana Ebler, Peter Ebert, Wayne E Clarke, et al.
Cell Genomics|May 25, 2023
Resolution of structural variation in diverse mouse genomes reveals chromatin remodeling due to transposable elementsArdian Ferraj, Peter A Audano, Parithi Balachandran, et al.
HGG Advances|April 29, 2026
Diagnostic utility of clinical genome reanalysis in rare pediatric disorders using long-read sequencingElizabeth A Werren, Purva Vats, Gabriel E Rech, et al.
Cell|January 22, 2019
Characterizing the Major Structural Variant Alleles of the Human GenomePeter A Audano, Arvis Sulovari, Tina A Graves-Lindsay, et al.
Annals of Human Genetics|November 12, 2019
Improved assembly and variant detection of a haploid human genome using single-molecule, high-fidelity long readsMitchell R Vollger, Glennis A Logsdon, Peter A Audano, et al.
Nature Biotechnology|December 8, 2020
Fully phased human genome assembly without parental data using single-cell strand sequencing and long readsDavid Porubsky, Peter Ebert, Peter A Audano, et al.
American Journal of Human Genetics|March 15, 2022
Familial long-read sequencing increases yield of de novo mutationsMichelle D Noyes, William T Harvey, David Porubsky, et al.
American Journal of Human Genetics|March 31, 2021
Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologiesXuefang Zhao, Ryan L Collins, Wan-Ping Lee, et al.
Pageof 4