Best practices for variant calling in clinical sequencing

بواسطة Koboldt, Daniel C.
الحاوية / القاعدة Genome Med (2020)

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

بواسطة Koboldt, Daniel C., Miller, Raymond D., Kwok, Pui-Yan
منشور في 2006

Using VarScan 2 for Germline Variant Calling and Somatic Mutation Detection

بواسطة Koboldt, Daniel C., Larson, David E., Wilson, Richard K.
الحاوية / القاعدة Curr Protoc Bioinformatics (2013)

Challenges of sequencing human genomes

بواسطة Koboldt, Daniel C., Ding, Li, Mardis, Elaine R., Wilson, Richard K.
منشور في 2010

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

بواسطة Ding, Li, Wendl, Michael C., Koboldt, Daniel C., Mardis, Elaine R.
منشور في 2010

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

بواسطة Franklin, Andrew D., Chaudhari, Bimal P., Koboldt, Daniel C., Machut, Kerri Z.
الحاوية / القاعدة Front Genet (2021)

Massively Parallel Sequencing Approaches for Characterization of Structural Variation

بواسطة Koboldt, Daniel C., Larson, David E., Chen, Ken, Ding, Li, Wilson, Richard K.
منشور في 2012

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

بواسطة Steinberg, Karyn Meltz, Yu, Bing, Koboldt, Daniel C., Mardis, Elaine R., Pamphlett, Roger
الحاوية / القاعدة Sci Rep (2015)

The Next-Generation Sequencing Revolution and Its Impact on Genomics

بواسطة Koboldt, Daniel C., Steinberg, Karyn Meltz, Larson, David E., Wilson, Richard K., Mardis, Elaine
منشور في 2013

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

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

A toolkit for rapid gene mapping in the nematode Caenorhabditis briggsae

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

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

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

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

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

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

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

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

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

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

بواسطة 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.
منشور في 2012

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

بواسطة 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.
الحاوية / القاعدة Cold Spring Harb Mol Case Stud (2020)

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

بواسطة 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
منشور في 2012

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

بواسطة 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
الحاوية / القاعدة Bioinformatics (2018)

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

بواسطة 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.
الحاوية / القاعدة Cold Spring Harb Mol Case Stud (2019)