Accurate and exact CNV identification from targeted high-throughput sequence data
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Tom Walsh | T. Walsh | M. King | Ming K. Lee | A. Nord | Mary-Claire King | Ming Lee | Alex S Nord
[1] S. Middha,et al. Erratum: Evaluation of oligonucleotide sequence capture arrays and comparison of next-generation sequencing platforms for use in molecular diagnostics (Clinical Chemistry (2010) 56 (1297-1306) DOI: 10.1373/clinchem. 2010.145441) , 2011 .
[2] Misko Dzamba,et al. Detecting copy number variation with mated short reads. , 2010, Genome research.
[3] Haley J. Abel,et al. SLOPE: a quick and accurate method for locating non-SNP structural variation from targeted next-generation sequence data , 2010, Bioinform..
[4] Sumit Middha,et al. Evaluation of oligonucleotide sequence capture arrays and comparison of next-generation sequencing platforms for use in molecular diagnostics. , 2010, Clinical chemistry.
[5] T. Walsh,et al. Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing , 2010, Proceedings of the National Academy of Sciences.
[6] Christian Gilissen,et al. Massively parallel sequencing of ataxia genes after array‐based enrichment , 2010, Human mutation.
[7] Tomas W. Fitzgerald,et al. Origins and functional impact of copy number variation in the human genome , 2010, Nature.
[8] G. Weinstock,et al. Targeted high-throughput DNA sequencing for gene discovery in retinitis pigmentosa. , 2009, Advances in experimental medicine and biology.
[9] Paul Medvedev,et al. Computational methods for discovering structural variation with next-generation sequencing , 2009, Nature Methods.
[10] E. Kirkness,et al. Mobile elements create structural variation: analysis of a complete human genome. , 2009, Genome research.
[11] Kenny Q. Ye,et al. Sensitive and accurate detection of copy number variants using read depth of coverage. , 2009, Genome research.
[12] Richard Durbin,et al. Sequence analysis Fast and accurate short read alignment with Burrows – Wheeler transform , 2009 .
[13] J. Maguire,et al. Solution Hybrid Selection with Ultra-long Oligonucleotides for Massively Parallel Targeted Sequencing , 2009, Nature Biotechnology.
[14] Derek Y. Chiang,et al. High-resolution mapping of copy-number alterations with massively parallel sequencing , 2009, Nature Methods.
[15]
R. Durbin,et al.
Mapping Quality Scores Mapping Short Dna Sequencing Reads and Calling Variants Using P ,
2022
.
[16]
Nancy F. Hansen,et al.
Accurate Whole Human Genome Sequencing using Reversible Terminator Chemistry
,
2008,
Nature.
[17]
Sharon J. Diskin,et al.
Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platforms
,
2008,
Nucleic acids research.
[18]
Antony V. Cox,et al.
Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing
,
2008,
Nature Genetics.
[19]
Philip M. Kim,et al.
Paired-End Mapping Reveals Extensive Structural Variation in the Human Genome
,
2007,
Science.
[20]
J. Lupski,et al.
Molecular mechanisms for genomic disorders.
,
2003,
Annual review of genomics and human genetics.
[21]
Cheng Li,et al.
Model-based analysis of oligonucleotide arrays: model validation, design issues and standard error application
,
2001,
Genome Biology.
[22]
E. Myers,et al.
Basic local alignment search tool.
,
1990,
Journal of molecular biology.