Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

By Murim Choi, U. Scholl, W. Ji, Tiewen Liu, Irina R. Tikhonova, Paul Zumbo, A. Nayır, A. Bakkaloğlu, S. Özen, S. Sanjad and 4 more. Proceedings of the National Academy of Sciences of the United States of America, 2009

1,411 citations recorded by the source corpus.

Subfields: Genetics, Molecular Biology, Surgery

View Paper: https://www.semanticscholar.org/paper/2c91938ee5834f1198af50331a1f585b913dbd77

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Citations in the corpus

Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data (2011, positive): “As a simple illustration of this concept, we and others have developed methods to identify causative genes for Mendelian disorders using exome sequencin”
A scalable, fully automated process for construction of sequence-ready human exome targeted capture libraries (2011, background): “At the same time, there is growing interest in sequencing specific portions of genomes, and several affordable methods for sample preparation of targeted regions have been recently published [13-17].”
Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV (2011, background): “This is in practice a reasonable strategy since ∼85% of the disease-causing mutations are found in the coding regions or canonical splice sites (Choi et al., 2009).”
Progress and Promise of Genome-Wide Association Studies for Human Complex Trait Genetics (2011, background): “As sequencing technologies advance, whole-exome and whole-genome sequencing will become feasible for large numbers of individuals; initial studies (Choi et al. 2009; Lupski et al. 2010; Ng et al. 2010) are promising, though they present a practical challenge of accurate identification of the lowest…”
A tale of three next generation sequencing platforms: comparison of Ion Torrent, Pacific Biosciences and Illumina MiSeq sequencers (2012, methodology): “Illumina sequencing has matured to the point where a great many applications [15-24] have been developed on the platform.”
Alzheimer’s Disease: The Challenge of the Second Century (2011, background): “This approach has already proved very effective in identifying causative genes for rare recessive disorders (148).”
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome (2010, positive): “646" language="eng" relation="no"> We demonstrate the successful application of exome sequencin”
Clonal Evolution of Pre-Leukemic Hematopoietic Stem Cells Precedes Human Acute Myeloid Leukemia (2012, methodology): “To identify mutations present in each AML sample, we used targeted exome sequencing (20, 21) of FACS-enriched AML cells and patient-matched CD3 T cells (see Fig.”
Preleukemic mutations in human acute myeloid leukemia affect epigenetic regulators and persist in remission (2014, methodology): “Exome sequencing (23, 24) of FACS-purified leukemia cells (CD99+ TIM3+) (22, 25) and patient-matched CD3+ T cells was used to identify leukemia-specific mutations in 10 patients.”
Co-occurring genomic alterations define major subsets of KRAS - mutant lung adenocarcinoma with distinct biology, immune profiles, and therapeutic vulnerabilities (2015, positive): “1 M human exome array, and whole-exome sequencing was undertaken on the Illumina HiSeq2000 platform as previously described (52).”
A survey of tools for variant analysis of next-generation genome sequencing data (2013, background): “erogeneous disorders [8, 9] and for improving the accuracy of diagnosis of patients [10, 11].”