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Integrative analysis of genomic alterations in triple-negative breast cancer in association with homologous 

recombination deficiency

Kawazu M et al. PLoS Genet. 2017 Jun 21;13(6):e1006853. doi: 10.1371/journal.pgen.1006853. PMID: 28636652.


Linked read sequencing resolves complex genomic rearrangements in gastric cancer metastases

Greer SU et al. Genome Med. 2017 Jun 19;9(1):57. doi: 10.1186/s13073-017-0447-8. PMID: 28629429.


Universal haplotype-based noninvasive prenatal testing for single gene diseases

Hui WW et al. Clin Chem. 2017 Feb;63(2):513-524. doi: 10.1373/clinchem.2016.268375. PMID: 27932412.


Genome-wide reconstruction of complex structural variants using read clouds

Spies N et al. 2016 Sept 10; Pre-print*.


Extensive sequencing of seven human genomes to characterize benchmark reference materials

Zook JM et al. Sci Data. 2016 Jun 7;3:160025. doi: 10.1038/sdata.2016.25. PMID: 27271295.


Direct determination of diploid genome sequences

Weisenfeld NI et al. Genome Res. 2017 May;27(5):757-767. doi: 10.1101/gr.214874.116. PMID: 28381613.


Single-Cell transcriptome sequencing of 18,787 human induced pluripotent stem cells identifies differentially primed subpopulations

Nguyen Q et al. 2017 Mar 22; Pre-print*.





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

Zheng GX et al. Nat Biotechnol. 2016 Mar;34(3):303-11. doi: 10.1038/nbt.3432. PMID: 26829319.


Haplotypes drop by drop

Kitzman JO. Nat Biotechnol. 2016 Mar;34(3):296-8. doi: 10.1038/nbt.3500. PMID: 26963554.



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