A Survey of Copy‐Number Variation Detection Tools Based on High‐Throughput Sequencing Data-Reference-Cited by-同舟云学术

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A Survey of Copy‐Number Variation Detection Tools Based on High‐Throughput Sequencing Data

Published:2012-10 Issue:1 Volume:75 Page:
ISSN:1934-8266
Container-title:Current Protocols in Human Genetics
language:en
Short-container-title:Current Protocols in Human Genetics

Author:

Xi Ruibin¹²,Lee Semin¹,Park Peter J.¹³⁴

Affiliation:

1. Center for Biomedical Informatics, Harvard Medical School Boston Massachusetts

2. School of Mathematical Sciences and Center for Statistical Science Peking University Beijng, China

3. Children's Hospital Informatics Program Boston Massachusetts

4. Division of Genetics, Brigham and Women's Hospital Boston Massachusetts

Publisher

Wiley

Subject

General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/0471142905.hg0719s75

Reference73 articles.

1. SLOPE: a quick and accurate method for locating non-SNP structural variation from targeted next-generation sequence data

2. CNVnator: An approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing

3. Limitations of next-generation genome sequence assembly

4. Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease

5. Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes

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1. Identification of Copy Number Alterations from Next-Generation Sequencing Data;Advances in Experimental Medicine and Biology;2022

2. A systematic evaluation of copy number alterations detection methods on real SNP array and deep sequencing data;BMC Bioinformatics;2019-12

3. The genomic basis of adaptation to calcareous and siliceous soils in Arabidopsis lyrata;Molecular Ecology;2018-12

4. Noise cancellation using total variation for copy number variation detection;BMC Bioinformatics;2018-10

5. Detecting Somatic Mutations in Normal Cells;Trends in Genetics;2018-07

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