VarScan: variant detection in massively parallel sequencing of individual and pooled samples (2009)
Koboldt, Daniel C., Chen, Ken, Wylie, Todd, Larson, David E., McLellan, Michael D., Mardis, Elaine R., ...
Summary: Massively parallel sequencing technologies hold incredible promise for the study of DNA sequence variation, particularly the identification of variants affecting human disease. The...
Somatic mutations affect key pathways in lung adenocarcinoma (2008)
Ding, Li, Getz, Gad, Wheeler, David A., Mardis, Elaine R., McLellan, Michael D., Cibulskis, Kristian, ...
Determining the genetic basis of cancer requires comprehensive analyses of large collections of histopathologically well- classified primary tumours. Here we report the results of a collaborative...
Marks, Jennifer L., Gong, Yixuan X., Chitale, Dhananjay, Golas, Ben, McLellan, Michael D., Kasai, Yumi, ...
Somatic mutations affect key pathways in lung adenocarcinoma (2008)
Ding, Li, Getz, Gad, Wheeler, David A., Mardis, Elaine R., McLellan, Michael D., Cibulskis, Kristian, ...
Chen, Ken, McLellan, Michael D., Ding, Li, Wendl, Michael C., Kasai, Yumi, Wilson, Richard K., ...
Small insertions and deletions (indels) and single nucleotide polymorphisms (SNPs) are common genetic variants that are thought to be associated with a wide variety of human diseases. Owing to the...
Marks, Jenifer L., McLellan, Michael D., Zakowski, Maureen F., Lash, Alex E., Kasai, Yumi, Broderick, Stephen, ...
PolyScan: An automatic indel and SNP detection approach to the analysis of human resequencing data
Chen, Ken, McLellan, Michael D., Ding, Li, Wendl, Michael C., Kasai, Yumi, Wilson, Richard K., ...
Small insertions and deletions (indels) and single nucleotide polymorphisms (SNPs) are common genetic variants that are thought to be associated with a wide variety of human diseases. Owing to the...
Link, Daniel C., Kunter, Ghada, Kasai, Yumi, Zhao, Yu, Miner, Tracie, McLellan, Michael D., ...
Severe congenital neutropenia (SCN) is an inborn disorder of granulopoiesis. Like most other bone marrow failure syndromes, it is associated with a marked propensity to transform into a...
Tomasson, Michael H., Xiang, Zhifu, Walgren, Richard, Zhao, Yu, Kasai, Yumi, Miner, Tracie, ...
Activating mutations in tyrosine kinase (TK) genes (eg, FLT3 and KIT) are found in more than 30% of patients with de novo acute myeloid leukemia (AML); many groups have speculated that mutations in...
Identification of somatic JAK1 mutations in patients with acute myeloid leukemia
Xiang, Zhifu, Zhao, Yu, Mitaksov, Vesselin, Fremont, Daved H., Kasai, Yumi, Molitoris, AnnaLynn, ...
Somatic mutations in JAK2 are frequently found in myeloproliferative diseases, and gain-of-function JAK3 alleles have been identified in M7 acute myeloid leukemia (AML), but a role for JAK1 in AML...