Harvard College

The Broad Institute, Inc.

Massachusetts Institute of Technology

Steven Andrew McCarroll

Aviv Regev

Giulio Genovese

Evan Macosko

Hongkun Park

Alexander K Shalek

Anindita Basu

Christopher B Ford

David A Weitz

Constance L Cepko

Karthik Shekhar

Po-Ru Loh

Joshua Sanes

Sylvain Lapan

Irene Whitney

Avery Davis Bell

Evan Zane Macosko

Embodiments disclosed herein provide methods, systems, and computer program products that utilize long-range phase information to detect subtle chromosome imbalances in genotype data. Clonal expansions result from mutation followed by selective proliferation, and the embodiments disclosed herein may be used to somatic structural variant events (SVs) predictive or diagnostic of cancer and other diseases.

Methods and systems for detection of somatic structural variants

The present disclosure relates to compositions and methods for performing droplet-based high throughput sequencing upon genomic DNA of single cells (e.g., individual sperm). The instant disclosure provides a droplet that includes: i) a mammalian cell nucleus; and ii) a microbead presenting attached oligonucleotides, where the attached oligonucleotides include a nucleic acid sequence capable of hybridization and capture of genomic DNA and a microbead identification sequence that is common to all oligonucleotides attached to the microbead, where the mammalian cell nucleus is accessible to the microbead-attached oligonucleotides to an extent sufficient to allow for genomic DNA capture and amplification of genomic DNA to occur within the droplet.

Droplet-based single cell genomic DNA sequencing

The present invention relates to clonal expansion of somatic cells in subjects, and acquired selective advantage of cell clones during the lifetime of a subject. In particular, the invention relates to methods for predicting the development of cancer based on the observation of specific genetic mutations in somatic cell clones, as well as to methods for treating or preventing cancer in a subject, in which clonal expansion of cells comprising specific modifications is observed.

Clonal haematopoiesis

The present invention generally relates to a combination of molecular barcoding and emulsion-based microfluidics to isolate, lyse, barcode, and prepare nucleic acids from individual cells in a high-throughput manner.

Droplet-based method and apparatus for composite single-cell nucleic acid analysis

The present invention provides for methods of identifying cell types and cell subtypes from a biological sample or population of target cells. The methods further provide for determining cell type or cell subtype signatures. The method further provides for bipolar cell subtypes and markers and cell signatures thereof.

Method for determination and identification of cell signatures and cell markers

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Cambridge, MA, United States of America

Steven Andrew McCarroll