Targeted sequencing by proximity ligation for comprehensive variant detection and local haplotyping

The MLL recombinome of acute leukemias in 2013

(2013) C Meyer et al.   LEUKEMIA

High-throughput genome scaffolding from in vivo DNA interaction frequency

(2013) Noam Kaplan et al.   NATURE BIOTECHNOLOGY

Chromosome-scale scaffolding of de novo genome assemblies based on chromatin interactions

(2013) Joshua N Burton et al.   NATURE BIOTECHNOLOGY

Whole-genome haplotype reconstruction using proximity-ligation and shotgun sequencing

(2013) Siddarth Selvaraj et al.   NATURE BIOTECHNOLOGY

Phenotypic impact of genomic structural variation: insights from and for human disease

(2013) Joachim Weischenfeldt et al.   NATURE REVIEWS GENETICS

Molecular genetic testing and the future of clinical genomics

(2013) Sara Huston Katsanis et al.   NATURE REVIEWS GENETICS

Determining long-range chromatin interactions for selected genomic sites using 4C-seq technology: From fixation to computation

(2012) Erik Splinter et al.   METHODS

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Primer3—new capabilities and interfaces

(2012) Andreas Untergasser et al.   NUCLEIC ACIDS RESEARCH

Systematic Localization of Common Disease-Associated Variation in Regulatory DNA

(2012) M. T. Maurano et al.   SCIENCE

Gene expression profiling assigns CHEK2 1100delC breast cancers to the luminal intrinsic subtypes

(2011) Jord H. A. Nagel et al.   BREAST CANCER RESEARCH AND TREATMENT

Integrated Transcript and Genome Analyses Reveal NKX2-1 and MEF2C as Potential Oncogenes in T Cell Acute Lymphoblastic Leukemia

(2011) Irene Homminga et al.   CANCER CELL

High-throughput semiquantitative analysis of insertional mutations in heterogeneous tumors

(2011) M. J. Koudijs et al.   GENOME RESEARCH

Non-canonical inflammasome activation targets caspase-11

(2011) Nobuhiko Kayagaki et al.   NATURE

Multiplexed array-based and in-solution genomic enrichment for flexible and cost-effective targeted next-generation sequencing

(2011) Magdalena Harakalova et al.   Nature Protocols

Target-enrichment strategies for next-generation sequencing

(2010) Lira Mamanova et al.   NATURE METHODS

Development of Personalized Tumor Biomarkers Using Massively Parallel Sequencing

(2010) R. J. Leary et al.   Science Translational Medicine

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

A High-Throughput Pharmaceutical Screen Identifies Compounds with Specific Toxicity against BRCA2-Deficient Tumors

(2009) B. Evers et al.   CLINICAL CANCER RESEARCH

High-resolution identification of balanced and complex chromosomal rearrangements by 4C technology

(2009) Marieke Simonis et al.   NATURE METHODS

A high-throughput splinkerette-PCR method for the isolation and sequencing of retroviral insertion sites

(2009) Anthony G Uren et al.   Nature Protocols

Inhibition of Poly(ADP-Ribose) Polymerase in Tumors fromBRCAMutation Carriers

(2009) Peter C. Fong et al.   NEW ENGLAND JOURNAL OF MEDICINE

Comprehensive Mapping of Long-Range Interactions Reveals Folding Principles of the Human Genome

(2009) E. Lieberman-Aiden et al.   SCIENCE

Application of molecular cytogenetic techniques to clarify apparently balanced complex chromosomal rearrangements in two patients with an abnormal phenotype: case report

(2009) Paula JP de Vree et al.   Molecular Cytogenetics

Critical function for Naip5 in inflammasome activation by a conserved carboxy-terminal domain of flagellin

(2008) Karla L Lightfield et al.   NATURE IMMUNOLOGY