Germline and Cancer Genome Phashing

[PMID:26829319] [Nature Biotechnology]

Haplotyping germline and cancer genomes with high-throughput linked-read sequencing

“a microfluidics-based, linked-read sequencing technology that can phase and haplotype germline and cancer genomes using nanograms of input DNA. This high-throughput platform prepares barcoded libraries for short-read sequencing and computationally reconstructs long-range haplotype and structural variant information. This approach resolves haplotype information using up to 100 times less genomic DNA than some methods and enables the accurate detection of structural variants.”

 

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