Lukas Habegger

发表

VAT: a computational framework to functionally annotate variants in personal genomes within a cloud-computing environment

Mark Gerstein, David Z. Chen, Michael Snyder, 2012, Bioinform..

Computationally efficient whole-genome regression for quantitative and binary traits

Gonçalo Abecasis, Leland Barnard, Jonathan Marchini, 2020, Nature Genetics.

Validating gene-phenotype associations using relationships in the UMLS

Lukas Habegger, Suganthi Balasubramanian, Michael N Cantor, 2020, bioRxiv.

Bioinformatics Applications Note Gene Expression Rseqtools: a Modular Framework to Analyze Rna-seq Data Using Compact, Anonymized Data Summaries

Mark Gerstein, Ashish Agarwal, Michael Snyder, 2022 .

CLAMMS: a scalable algorithm for calling common and rare copy number variants from exome sequencing data

Frederick E. Dewey, Alexander E. Lopez, John D. Overton, 2015, Bioinform..

Discovery of non-ETS gene fusions in human prostate cancer using next-generation RNA sequencing.

Francesca Demichelis, Mark B Gerstein, Lukas Habegger, 2011, Genome research.

Gene inactivation and its implications for annotation in the era of personal genomics.

Mark Gerstein, Jennifer Harrow, Daniel G MacArthur, 2011, Genes & development.

Accurate Identification and Analysis of Human mRNA Isoforms Using Deep Long Read Sequencing

Mark Gerstein, Lukas Habegger, Michael Snyder, 2013, G3: Genes, Genomes, Genetics.

MacArthur Protein-Coding Genes A Systematic Survey of Loss-of-Function Variants in Human

Klaudia Walter, Joseph K. Pickrell, Jennifer Harrow, 2012 .

Whole exome sequencing and characterization of coding variation in 49,960 individuals in the UK Biobank

Gonçalo Abecasis, Alan R. Shuldiner, Jeffrey Staples, 2019, bioRxiv.

The genomic complexity of primary human prostate cancer

Eric S. Lander, Kristian Cibulskis, Todd R. Golub, 2010, Nature.

KaryoScan: abnormal karyotype detection from whole-exome sequence

Jeffrey Staples, Frederick E. Dewey, Alexander E. Lopez, 2017 .

IQSeq: Integrated Isoform Quantification Analysis Based on Next-Generation Sequencing

Mark Gerstein, Drew McDermott, Lukas Habegger, 2012, PloS one.

Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study

Marylyn D. Ritchie, Scott Mellis, Alan R. Shuldiner, 2016, Science.

Rational genomics I: Antisense open reading frames and codon bias in short‐chain oxido reductase enzymes and the evolution of the genetic code

Robert Huether, Lukas Habegger, V. Pletnev, 2005, Proteins.

Consortium, G.P A map of human genome variation from population-scale sequencing. Nature 467, 1061-1073

Ken Chen, Joshua M. Korn, Afidalina Tumian, 2010 .

Profiling copy number variation and disease associations from 50,726 DiscovEHR Study exomes

Marylyn D. Ritchie, Alan R. Shuldiner, Jeffrey Staples, 2017, bioRxiv.

Performance comparison of whole-genome sequencing platforms

Euan A Ashley, Rong Chen, Michael Snyder, 2011, Nature Biotechnology.

Determining Structure and Function of Steroid Dehydrogenase Enzymes by Sequence Analysis, Homology Modeling, and Rational Mutational Analysis

Robert Huether, Lukas Habegger, V. Pletnev, 2005, Annals of the New York Academy of Sciences.