Best practices for variant calling in clinical sequencing

por Koboldt, Daniel C.
Publicado en Genome Med (2020)

Distribution of Human SNPs and Its Effect on High-Throughput Genotyping

por Koboldt, Daniel C., Miller, Raymond D., Kwok, Pui-Yan
Publicado 2006

Using VarScan 2 for Germline Variant Calling and Somatic Mutation Detection

por Koboldt, Daniel C., Larson, David E., Wilson, Richard K.
Publicado en Curr Protoc Bioinformatics (2013)

Challenges of sequencing human genomes

por Koboldt, Daniel C., Ding, Li, Mardis, Elaine R., Wilson, Richard K.
Publicado 2010

Analysis of next-generation genomic data in cancer: accomplishments and challenges

por Ding, Li, Wendl, Michael C., Koboldt, Daniel C., Mardis, Elaine R.
Publicado 2010

Polymerase Gamma Mitochondrial DNA Depletion Syndrome Initially Presenting as Disproportionate Respiratory Distress in a Moderately Premature Neonate: A Case Report

por Franklin, Andrew D., Chaudhari, Bimal P., Koboldt, Daniel C., Machut, Kerri Z.
Publicado en Front Genet (2021)

Massively Parallel Sequencing Approaches for Characterization of Structural Variation

por Koboldt, Daniel C., Larson, David E., Chen, Ken, Ding, Li, Wilson, Richard K.
Publicado 2012

Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS

por Steinberg, Karyn Meltz, Yu, Bing, Koboldt, Daniel C., Mardis, Elaine R., Pamphlett, Roger
Publicado en Sci Rep (2015)

The Next-Generation Sequencing Revolution and Its Impact on Genomics

por Koboldt, Daniel C., Steinberg, Karyn Meltz, Larson, David E., Wilson, Richard K., Mardis, Elaine
Publicado 2013

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

por Hillier, LaDeana W, Miller, Raymond D, Baird, Scott E, Chinwalla, Asif, Fulton, Lucinda A, Koboldt, Daniel C, Waterston, Robert H
Publicado 2007

A toolkit for rapid gene mapping in the nematode Caenorhabditis briggsae

por Koboldt, Daniel C, Staisch, Julia, Thillainathan, Bavithra, Haines, Karen, Baird, Scott E, Chamberlin, Helen M, Haag, Eric S, Miller, Raymond D, Gupta, Bhagwati P
Publicado 2010

Caenorhabditis briggsae Recombinant Inbred Line Genotypes Reveal Inter-Strain Incompatibility and the Evolution of Recombination

por Ross, Joseph A., Koboldt, Daniel C., Staisch, Julia E., Chamberlin, Helen M., Gupta, Bhagwati P., Miller, Raymond D., Baird, Scott E., Haag, Eric S.
Publicado 2011

Genomic profiling of murine mammary tumors identifies potential personalized drug targets for p53-deficient mammary cancers

por Pfefferle, Adam D., Agrawal, Yash N., Koboldt, Daniel C., Kanchi, Krishna L., Herschkowitz, Jason I., Mardis, Elaine R., Rosen, Jeffrey M., Perou, Charles M.
Publicado en Dis Model Mech (2016)

A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge–Ropers syndrome

por Koboldt, Daniel C., Mihalic Mosher, Theresa, Kelly, Benjamin J., Sites, Emily, Bartholomew, Dennis, Hickey, Scott E., McBride, Kim, Wilson, Richard K., White, Peter
Publicado en Cold Spring Harb Mol Case Stud (2018)

VarScan: variant detection in massively parallel sequencing of individual and pooled samples

por Koboldt, Daniel C., Chen, Ken, Wylie, Todd, Larson, David E., McLellan, Michael D., Mardis, Elaine R., Weinstock, George M., Wilson, Richard K., Ding, Li
Publicado 2009

VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing

por Koboldt, Daniel C., Zhang, Qunyuan, Larson, David E., Shen, Dong, McLellan, Michael D., Lin, Ling, Miller, Christopher A., Mardis, Elaine R., Ding, Li, Wilson, Richard K.
Publicado 2012

Early-onset Wilson disease caused by ATP7B exon skipping associated with intronic variant

por Koboldt, Daniel C., Hickey, Scott E., Chaudhari, Bimal P., Mihalic Mosher, Theresa, Bedrosian, Tracy, Crist, Erin, Kaler, Stephen G., McBride, Kim, White, Peter, Wilson, Richard K.
Publicado en Cold Spring Harb Mol Case Stud (2020)

SomaticSniper: identification of somatic point mutations in whole genome sequencing data

por Larson, David E., Harris, Christopher C., Chen, Ken, Koboldt, Daniel C., Abbott, Travis E., Dooling, David J., Ley, Timothy J., Mardis, Elaine R., Wilson, Richard K., Ding, Li
Publicado 2012

Functional annotation of genomic variants in studies of late-onset Alzheimer’s disease

por Butkiewicz, Mariusz, Blue, Elizabeth E, Leung, Yuk Yee, Jian, Xueqiu, Marcora, Edoardo, Renton, Alan E, Kuzma, Amanda, Wang, Li-San, Koboldt, Daniel C, Haines, Jonathan L, Bush, William S
Publicado en Bioinformatics (2018)

Novel in-frame FLNB deletion causes Larsen syndrome in a three-generation pedigree

por Hickey, Scott E., Koboldt, Daniel C., Mosher, Theresa Mihalic, Brennan, Patrick, Schmalz, Beth A., Crist, Erin, McBride, Kim L., Adler, Brent H., White, Peter, Wilson, Richard K.
Publicado en Cold Spring Harb Mol Case Stud (2019)