C. Xiao

发表

The MicroArray Quality Control (MAQC) project shows inter- and intraplatform reproducibility of gene expression measurements.

Hanlee P. Ji, G. M. Fischer, Stephen C. Harris, 2006, Nature biotechnology.

A diploid assembly-based benchmark for variants in the major histocompatibility complex

Q. Zeng, M. Schatz, V. Bansal, 2020, Nature communications.

Extensive sequencing of seven human genomes to characterize benchmark reference materials

Alexa B. R. McIntyre, Grace X. Y. Zheng, Mark J. P. Chaisson, 2015, Scientific Data.

The Sequence of the Human Genome

Timothy B. Stockwell, William H. Majoros, Helen M. Moore, 2001, Science.

A Comparison of Whole-Genome Shotgun-Derived Mouse Chromosome 16 and the Human Genome

William H. Majoros, Randall A. Bolanos, Ashwinikumar K. Naik, 2002, Science.

Distinct molecular mechanisms underlying clinically relevant subtypes of breast cancer: gene expression analyses across three different platforms

T. Sørlie, H. Johnsen, A. Børresen-Dale, 2006, BMC Genomics.

The 1000 Genomes Project: data management and community access

Brendan W. Vaughan, R. Leinonen, S. Sherry, 2012, Nature Methods.

A complete reference genome improves analysis of human genetic variation

Ryan M. Layer, Nathan D. Olson, Nancy F. Hansen, 2021, bioRxiv.

Consortium, G.P A map of human genome variation from population-scale sequencing. Nature 467, 1061-1073

Ken Chen, Joshua M. Korn, Afidalina Tumian, 2010 .

Benchmarking challenging small variants with linked and long reads

Andrew Carroll, Giuseppe Narzisi, Chunlin Xiao, 2020 .

Establishing reference samples for detection of somatic mutations and germline variants with NGS technologies

Hugo Y. K. Lam, Daoud M. Meerzaman, S. Sherry, 2019, bioRxiv.

W. Xiao, Leming Shi, W. Tong, 2019 .

An efficient and high-throughput approach for experimental validation of novel human gene predictions.

K. Guegler, R. R. Samaha, C. Xiao, 2006, Genomics.

Title: A complete human reference genome improves variant calling for population and clinical genomics

Ryan M. Layer, Nathan D. Olson, Nancy F. Hansen, 2021 .

Towards increased accuracy and reproducibility in SARS-CoV-2 next generation sequence analysis for public health surveillance

K. Katz, K. Pruitt, C. Xiao, 2022, bioRxiv.

Structural variant analysis of a cancer reference cell line sample using multiple sequencing technologies

Daoud M. Meerzaman, A. Pang, W. Xiao, 2022, Genome biology.

The complete sequence of a human genome

Aaron M. Streets, Ira M. Hall, Nathan D. Olson, 2021, bioRxiv.

The Protein Information Resource (PIR)

Peter B. McGarvey, Robert S. Ledley, Cathy H. Wu, 2000, Nucleic Acids Res..

An integrated map of genetic variation from 1,092 human genomes

Kenny Q. Ye, Mauricio O. Carneiro, Francisco M. De La Vega, 2012, Nature.

Towards a Comprehensive Variation Benchmark for Challenging Medically-Relevant Autosomal Genes

Mark T. W. Ebbert, Nathan D. Olson, Karen H. Miga, 2021, bioRxiv.

A robust benchmark for detection of germline large deletions and insertions

Ken Chen, Adam M. Phillippy, Iman Hajirasouliha, 2020, Nature Biotechnology.

Assessing reproducibility of inherited variants detected with short-read whole genome sequencing

G. Schroth, W. Xiao, J. Zook, 2022, Genome biology.

Curated variation benchmarks for challenging medically-relevant autosomal genes

Mark T. W. Ebbert, Nathan D. Olson, Karen H. Miga, 2021, Nature Biotechnology.

Benchmarking challenging small variants with linked and long reads

Nathan D. Olson, Ian T. Fiddes, Wayne E. Clarke, 2020, bioRxiv.

High-coverage, long-read sequencing of Han Chinese trio reference samples

Marc L. Salit, Gintaras Deikus, Ying-Chih Wang, 2019, Scientific Data.

A robust benchmark for germline structural variant detection

Sergey Koren, Adam M. Phillippy, Iman Hajirasouliha, 2019, bioRxiv.

SVCurator: A Crowdsourcing app to visualize evidence of structural variants for the human genome

Daniel Blankenberg, Lesley M Chapman, Noah Spies, 2019, bioRxiv.

Personalized genome assembly for accurate cancer somatic mutation discovery using tumor-normal paired reference samples

Valerie A. Schneider, W. Xiao, C. Xiao, 2021, bioRxiv.

Achieving robust somatic mutation detection with deep learning models derived from reference data sets of a cancer sample

Luis V. Santana-Quintero, W. Xiao, M. Mohiyuddin, 2022, Genome Biology.

Establishing community reference samples, data and call sets for benchmarking cancer mutation detection using whole-genome sequencing

Hugo Y. K. Lam, Winnie S. Liang, Daoud M. Meerzaman, 2021, Nature Biotechnology.

PIR: a new resource for bioinformatics

Peter B. McGarvey, Cathy H. Wu, Hongzhan Huang, 2000, Bioinform..

Cross-oncopanel study reveals high sensitivity and accuracy with overall analytical performance depending on genomic regions

Paul M. Rindler, David P. Kreil, Paweł P. Łabaj, 2021, Genome biology.

Reproducible integration of multiple sequencing datasets to form high-confidence SNP, indel, and reference calls for five human genome reference materials

Chunlin Xiao, Marc Salit, Francisco M. De La Vega, 2018, bioRxiv.

An open resource for accurately benchmarking small variant and reference calls

Chunlin Xiao, Marc Salit, Justin M Zook, 2019, Nature Biotechnology.

Protein Information Resource: a community resource for expert annotation of protein data

Peter B. McGarvey, Robert S. Ledley, Cathy H. Wu, 2001, Nucleic Acids Res..

Subclassification and molecular characterization of early stage breast carcinomas using Applied Biosystems Human Genome Survey Microarrays

T. Sørlie, H. Johnsen, C. Xiao, 2005, Breast Cancer Research.

Chaoyang Zhang, Weida Tong, Huixiao Hong, 2019, BMC Bioinformatics.

iProClass: an integrated, comprehensive and annotated protein classification database

Cathy H. Wu, Hongzhan Huang, Winona C. Barker, 2001, Nucleic Acids Res..

A robust benchmark for detection of germline large deletions and insertions

Ian T. Fiddes, Jay M. Sage, Michael D. Kaiser, 2020, Nature Biotechnology.

W. Xiao, Leming Shi, W. Tong, 2019, BMC Bioinformatics.

Author Correction: A robust benchmark for detection of germline large deletions and insertions

Ian T. Fiddes, Jay M. Sage, Michael D. Kaiser, 2020, Nature Biotechnology.

Toward best practice in cancer mutation detection with whole-genome and whole-exome sequencing

Thomas M. Blomquist, Daoud M. Meerzaman, S. Sherry, 2021, Nature Biotechnology.

Correction to: Similarities and differences between variants called with human reference genome HG19 or HG38

Chaoyang Zhang, Weida Tong, Huixiao Hong, 2019, BMC Bioinformatics.

A crowdsourced set of curated structural variants for the human genome

Daniel Blankenberg, Chun Shen Lim, Lesley M Chapman, 2020, PLoS Comput. Biol..

Human genome meeting 2016

Kumar Kshitij Patel, Jose Maria Gonzalez-Izarzugaza, A. Pang, 2016, Human Genomics.

Extensive sequencing of seven human genomes to characterize benchmark reference materials

Gintaras Deikus, Ali Bashir, Alex Hastie, 2015, Scientific Data.