Publications by authors named "Charles Markello"

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A draft human pangenome reference.
Wen-Wei Liao, Mobin Asri, Jana Ebler, Daniel Doerr, Marina Haukness, Charles Markello

Nature· May 2023

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A complete pedigree-based graph workflow for rare candidate variant analysis.
Charles Markello, Charles Huang, Alex Rodriguez, Andrew Carroll, Pi-Chuan Chang, Thomas Markello

Genome Res· May 2022

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Benchmarking challenging small variants with linked and long reads.
Justin Wagner, Nathan D Olson, Lindsay Harris, Ziad Khan, Jesse Farek, Charles Markello

Cell Genom· May 2022

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Federated analysis of BRCA1 and BRCA2 variation in a Japanese cohort.
James Casaletto, Michael Parsons, Charles Markello, Yusuke Iwasaki, Yukihide Momozawa

Cell Genom· March 2022

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Pangenomics enables genotyping of known structural variants in 5202 diverse genomes.
Jouni Sirén, Jean Monlong, Xian Chang, Adam M Novak, Jordan M Eizenga, Charles Markello

Science· December 2021

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A diploid assembly-based benchmark for variants in the major histocompatibility complex.
Chen-Shan Chin, Justin Wagner, Qiandong Zeng, Erik Garrison, Shilpa Garg, Charles Markello

Nat Commun· September 2020

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A strategy for building and using a human reference pangenome.
Bastien Llamas, Giuseppe Narzisi, Valerie Schneider, Peter A Audano, Evan Biederstedt, Charles J Markello

F1000Res· October 2019

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BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2.
Melissa S Cline, Rachel G Liao, Michael T Parsons, Benedict Paten, Faisal Alquaddoomi, Charles Markello

PLoS Genet· December 2018

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Variation graph toolkit improves read mapping by representing genetic variation in the reference.
Erik Garrison, Jouni Sirén, Adam M Novak, Glenn Hickey, Jordan M Eizenga, Charles Markello

Nat Biotechnol· October 2018

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