Best practices for variant calling in clinical sequencing

Bằng Koboldt, Daniel C.
Xuất bản năm Genome Med (2020)

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

Bằng Koboldt, Daniel C., Miller, Raymond D., Kwok, Pui-Yan
Được phát hành 2006

Using VarScan 2 for Germline Variant Calling and Somatic Mutation Detection

Bằng Koboldt, Daniel C., Larson, David E., Wilson, Richard K.
Xuất bản năm Curr Protoc Bioinformatics (2013)

Challenges of sequencing human genomes

Bằng Koboldt, Daniel C., Ding, Li, Mardis, Elaine R., Wilson, Richard K.
Được phát hành 2010

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

Bằng Ding, Li, Wendl, Michael C., Koboldt, Daniel C., Mardis, Elaine R.
Được phát hành 2010

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

Bằng Franklin, Andrew D., Chaudhari, Bimal P., Koboldt, Daniel C., Machut, Kerri Z.
Xuất bản năm Front Genet (2021)

Massively Parallel Sequencing Approaches for Characterization of Structural Variation

Bằng Koboldt, Daniel C., Larson, David E., Chen, Ken, Ding, Li, Wilson, Richard K.
Được phát hành 2012

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

Bằng Steinberg, Karyn Meltz, Yu, Bing, Koboldt, Daniel C., Mardis, Elaine R., Pamphlett, Roger
Xuất bản năm Sci Rep (2015)

The Next-Generation Sequencing Revolution and Its Impact on Genomics

Bằng Koboldt, Daniel C., Steinberg, Karyn Meltz, Larson, David E., Wilson, Richard K., Mardis, Elaine
Được phát hành 2013

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

Bằng Hillier, LaDeana W, Miller, Raymond D, Baird, Scott E, Chinwalla, Asif, Fulton, Lucinda A, Koboldt, Daniel C, Waterston, Robert H
Được phát hành 2007

A toolkit for rapid gene mapping in the nematode Caenorhabditis briggsae

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

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

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

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

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

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

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

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

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

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

Bằng 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.
Được phát hành 2012

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

Bằng 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.
Xuất bản năm Cold Spring Harb Mol Case Stud (2020)

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

Bằng 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
Được phát hành 2012

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

Bằng 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
Xuất bản năm Bioinformatics (2018)

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

Bằng 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.
Xuất bản năm Cold Spring Harb Mol Case Stud (2019)