Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects
暂无分享,去创建一个
Yeting Zhang | Heng Li | Eric Banks | Allison A. Regier | Yossi Farjoun | David Larson | Olga Krasheninina | Hyun Min Kang | Daniel P. Howrigan | Bo-Juen Chen | Manisha Kher | Darren C. Ames | Adam C. English | Jinchuan Xing | Tara Matise | Goncalo R. Abecasis | Will Salerno | Michael C. Zody | Benjamin M. Neale | Ira M. Hall
[1] Richard Durbin,et al. Extending reference assembly models , 2015, Genome Biology.
[2] J. Zook,et al. Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls , 2013, Nature Biotechnology.
[3] Kenny Q. Ye,et al. An integrated map of genetic variation from 1,092 human genomes , 2012, Nature.
[4] Ryan M. Layer,et al. SpeedSeq: Ultra-fast personal genome analysis and interpretation , 2014, Nature Methods.
[5] Heng Li. Aligning sequence reads, clone sequences and assembly contigs with BWA-MEM , 2013, 1303.3997.
[6] Gabor T. Marth,et al. A global reference for human genetic variation , 2015, Nature.
[7] Ryan M. Layer,et al. LUMPY: a probabilistic framework for structural variant discovery , 2012, Genome Biology.
[8] Markus Hsi-Yang Fritz,et al. Efficient storage of high throughput DNA sequencing data using reference-based compression. , 2011, Genome research.
[9] Alan M. Kwong,et al. A reference panel of 64,976 haplotypes for genotype imputation , 2015, Nature Genetics.
[10] M. DePristo,et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data , 2011, Nature Genetics.
[11] Gonçalo R. Abecasis,et al. The Sequence Alignment/Map format and SAMtools , 2009, Bioinform..
[12] Ira M. Hall,et al. SAMBLASTER: fast duplicate marking and structural variant read extraction , 2014, Bioinform..
[13] Len A. Pennacchio,et al. Genomic Patterns of De Novo Mutation in Simplex Autism , 2017, Cell.
[14] G. Abecasis,et al. An efficient and scalable analysis framework for variant extraction and refinement from population-scale DNA sequence data , 2015, Genome research.
[15] James Y. Zou. Analysis of protein-coding genetic variation in 60,706 humans , 2015, Nature.