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NATURE GENETICS (2010)
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
Sarah B. Ng et al.
NATURE GENETICS (2010)
Exome sequencing makes medical genomics a reality
Leslie G. Biesecker
NATURE GENETICS (2010)
Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS
Jane O. Johnson et al.
NEURON (2010)
Exome Sequencing, ANGPTL3 Mutations, and Familial Combined Hypolipidemia
Kiran Musunuru et al.
NEW ENGLAND JOURNAL OF MEDICINE (2010)
Whole-Genome Sequencing of a Single Proband Together with Linkage Analysis Identifies a Mendelian Disease Gene
Nara L. M. Sobreira et al.
PLOS GENETICS (2010)
Targeted capture and massively parallel sequencing of 12 human exomes
Sarah B. Ng et al.
NATURE (2009)
Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing
Andreas Gnirke et al.
NATURE BIOTECHNOLOGY (2009)
Virtual terminator nucleotides for next-generation DNA sequencing
Jayson Bowers et al.
NATURE METHODS (2009)
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
Murim Choi et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
Real-Time DNA Sequencing from Single Polymerase Molecules
John Eid et al.
SCIENCE (2009)
CANDID: A Flexible Method for Prioritizing Candidate Genes for Complex Human Traits
Janna E. Hutz et al.
GENETIC EPIDEMIOLOGY (2008)
What would you do if you could sequence everything?
Avak Kahvejian et al.
NATURE BIOTECHNOLOGY (2008)
The diploid genome sequence of an individual human
Samuel Levy et al.
PLOS BIOLOGY (2007)
Gene functional similarity search tool (GFSST)
PS Zhang et al.
BMC BIOINFORMATICS (2006)
Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease
D Botstein et al.
NATURE GENETICS (2003)