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January 20, 2022 by Brittany Enzmann, PhD 3 min read

2021 Publications with Tapestri Single-cell Analysis

2021 was a fruitful year for research and we are pleased that single-cell analysis using Tapestri enabled numerous impactful publications. Tapestri was used for a variety of applications, such as revealing the resistance mechanism of cancer, detecting measurable residual disease (MRD), and assessing the mutations of gene-edited disease models. Several studies also leveraged single-cell analysis to investigate disorders of solid tissues, including melanoma, lung cancer, and vascular disease. Below, we have compiled a list of the publications so you can review the great work of your peers. 

As this new year begins, we are excited about the insights that single-cell DNA sequencing and multi-omics will reveal. At Mission Bio, we continue to live and breathe our mission: to enable researchers to better understand diseases and develop next-generation of therapeutics. Looking forward, we are eager to hear about the great breakthroughs to come. Bravo to a great 2021 and cheers to another great year ahead!

Profiling Heme Malignancies 

Sahoo S.S. et al., Nature Medicine
Clinical evolution, genetic landscape, and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes
Uncovered diversity of somatic genetic rescue events in pediatric instances of SAMD9/9L syndromes, some of which serve as “natural gene therapy.”
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Alberti-Servera, L. et al., Blood
Single-cell DNA amplicon sequencing reveals clonal heterogeneity and evolution in T-cell acute lymphoblastic leukemia
First study to assess the clonality and order of mutation acquisition of T-cell acute lymphoblastic leukemia (T-ALL) patient samples.

Patel, B.A. et al., Haematologica
Detectable mutations precede late myeloid neoplasmia in aplastic anemia
Identified evolution of mutations in a rare case where a severe aplastic anemia (SAA) patient who received immunosuppressive therapy developed MDS/AML with normal cytogenetics.

Lim, K.H. et al., Blood Advances
Clonal evolution and heterogeneity in advanced systemic mastocytosis revealed by single-cell DNA sequencing
Investigation of resistance to the multikinase inhibitor, midostaurin, in patients with advanced systemic mastocytosis (advSM).

Thijssen, R. et al., Blood
Intact TP-53 function is essential for sustaining durable responses to BH3-mimetic drugs in leukemias
Revealed the effect of TP-53 mutation status on the treatment of AML with the BH3-mimetic drugs.

Understanding Resistance and Relapse

Peretz, C.A. et al., Blood Advances
Single cell DNA sequencing reveals complex mechanisms of resistance to quizartinib
Investigated mechanisms of resistance to quizartinib in patients with FLT3-ITD mutated AML.

Wang, F. et al., Nature Communications
Leukemia stemness and co-occurring mutations drive resistance to IDH inhibitors in acute myeloid leukemia
Investigated clones that enabled relapse in AML patients who received IDH inhibitor treatment.

Thompson E.R. et al., Blood Advances
Single-cell sequencing demonstrates complex resistance landscape in CLL and MCL treated with BTK and BCL2 inhibitors
Identified clonal architecture of acquired genomic resistance to BTK and BCL2 inhibitors in CLL and MCL patients.

Assessing Solid Tumors and Tissues

Zhao Y. et al., Nature
Diverse alterations associated with resistance to KRAS(G12C) inhibition
Revealed a heterogeneous pattern of resistance involving many genes and multiple subclonal events emerging during KRAS (G12C) inhibitor treatment for lung and colorectal cancer.

Marin-Bejar, O. et al., Cancer Cell
Evolutionary predictability of genetic versus nongenetic resistance to anticancer drugs in melanoma
An analysis of genetic and nongenetic mechanisms of therapy resistance in melanoma.

Ren, A. et al., Nature
PIK3CA and CCM mutations fuel cavernomas through a cancer-like mechanism
Single-nuclei sequencing revealed patterns of co-mutation that promote cerebral cavernous malformations (CCMs).
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Detecting Measurable Residual Disease (MRD) & Clonal Hematopoiesis of Indeterminate Potential (CHIP)

Thompson E.R. et al., Haematologica
Clonal independence of JAK2 and CALR or MPL mutations in comutated myeloproliferative neoplasms demonstrated by single cell DNA sequencing
First publication in T-cell acute lymphoblastic leukemia (T-ALL) that highlights SNVs/indels and MRD detection.

Dillon L.W. et al., Blood Cancer Discovery
Personalized single-cell proteogenomics to distinguish acute myeloid leukemia from nonmalignant clonal hematopoiesis
Distinguished malignant variants of AML from age-related clonal hematopoiesis by resolving immunophenotypic identity of clonal architecture.

Kennedy, A.L. et al., Nature Communications
Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome
Zygosity and CN-LOH are reliably measured with high sensitivity (0.1%) and predict progression to leukemia in patients with Shwachman-Diamond syndrome.

Measuring Genome-Edited Cancer Models

Ilacobucci, I. et al., Blood
Modeling and targeting of erythroleukemia by hematopoietic genome editing
Used scDNA-seq to analyze CRISPR-edited cells in preclinical models of acute erythroid leukemia (AEL).
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Using Multi-omics to Explore Genotype + Phenotype

Demaree, B. et al., Nature Communications
Joint profiling of DNA and proteins in single cells to dissect genotype-phenotype associations in leukemia
Genotype & immunophenotype “decoupling” in leukemias samples was revealed using single-cell multi-omics.

Sharma R. et al., Blood
Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue
Single-cell DNA+protein multi-omics revealed somatic genetic rescue events that evolved independently in HSPCs, myeloid cells, and B-cells in patients with telomere disorders.

Want a complete list of Tapestri publications? Get it here.

About the Author

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