Daniel C Koboldt

发表

Massively parallel sequencing approaches for characterization of structural variation.

Ken Chen, Li Ding, David E Larson, 2012, Methods in molecular biology.

Identification of functional variants for cleft lip with or without cleft palate in or near PAX7, FGFR2, and NOG by targeted sequencing of GWAS loci.

Ingo Ruczinski, Qunyuan Zhang, Ferdouse Begum, 2015, American journal of human genetics.

Exome-based mapping and variant prioritization for inherited Mendelian disorders.

Jennifer D. Churchill, David E Larson, Nathaniel G. Nutter, 2014, American journal of human genetics.

Activating HER2 mutations in HER2 gene amplification negative breast cancer.

Li Ding, Ron Bose, Wei Shen, 2013, Cancer discovery.

Patterns and functional implications of rare germline variants across 12 cancer types

Li Ding, Benjamin J Raphael, Benjamin J. Raphael, 2015, Nature Communications.

Comparison of C. elegans and C. briggsae Genome Sequences Reveals Extensive Conservation of Chromosome Organization and Synteny

Asif Chinwalla, L. Fulton, L. Hillier, 2007, PLoS biology.

Complete characterization of the microRNAome in a patient with acute myeloid leukemia.

Li Ding, Todd Wylie, Rakesh Nagarajan, 2010, Blood.

Application of next-generation sequencing to identify genes and mutations causing autosomal dominant retinitis pigmentosa (adRP).

Yumei Li, George M Weinstock, Rui Chen, 2014, Advances in experimental medicine and biology.

Clonal architecture of secondary acute myeloid leukemia.

Ken Chen, Li Ding, Xian Fan, 2012, The New England journal of medicine.

Next-generation sequencing identifies the natural killer cell microRNA transcriptome.

Todd Wylie, Rakesh Nagarajan, Todd A Fehniger, 2010, Genome research.

Identification of a novel TP53 cancer susceptibility mutation through whole-genome sequencing of a patient with therapy-related AML.

Li Ding, Rakesh Nagarajan, Ken Chen, 2011, JAMA.

Whole genome sequencing of Caribbean Hispanic families with late‐onset Alzheimer's disease

James Jaworski, Mohamad Saad, Eric Boerwinkle, 2018, Annals of clinical and translational neurology.

Using VarScan 2 for Germline Variant Calling and Somatic Mutation Detection

David E Larson, R. Wilson, D. Larson, 2013, Current protocols in bioinformatics.

Recurring mutations found by sequencing an acute myeloid leukemia genome.

Ken Chen, Li Ding, Joshua F. McMichael, 2009, The New England journal of medicine.