Balanced Chromosomal Rearrangement Detection by Low-Pass Whole-Genome Sequencing.
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| Abstract | Balanced chromosomal rearrangements (or balanced chromosome abnormalities, BCAs) are common chromosomal structural variants. Emerging studies have demonstrated the feasibility of using whole-genome sequencing (WGS) for detection of BCA-associated breakpoints, but the requirement for a priori knowledge of the rearranged regions from G-banded chromosome analysis limits its application. The protocols described here are based on low-pass WGS for detecting BCA events independent from chromosome analysis, and has been validated using genomic data from the 1000 Genomes Project. This approach adopts non-size-selected mate-pair library (3∼8 kb) with 2∼3 μg DNA as input, and requires only 30 million read-pairs (50 bp, equivalent to 1-fold base-coverage) for each sample. The complete procedure takes 13 days and the total cost is estimated to be less than $600 (USD) per sample. © 2018 by John Wiley & Sons, Inc. |
| Year of Publication | 2018
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| Journal | Curr Protoc Hum Genet
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| Volume | 96
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| Pages | 8.18.1-8.18.16
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| Date Published | 2018 01 24
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| ISSN | 1934-8258
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| DOI | 10.1002/cphg.51
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| PubMed ID | 29364520
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| PubMed Central ID | PMC5924704
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| Grant list | P01 GM061354 / GM / NIGMS NIH HHS / United States
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