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In Print: Last Week's Clinical Sequencing Papers of Note: Feb 13, 2013


Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.
Lopes LR, Zekavati A, Syrris P, Hubank M, et al.
J Med Genet. 2013 Feb 8. [Epub ahead of print]

Multiple myeloma is affected by multiple and heterogeneous somatic mutations in adhesion- and receptor tyrosine kinase signaling molecules.
Leich E, Weißbach S, Klein HU, Grieb T, et al.
Blood Cancer J. 2013 Feb 8;3:e102.

Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.
Kirby A, Gnirke A, Jaffe DB, Barešová V, et al.
Nat Genet. 2013 Feb 10. [Epub ahead of print]

Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples.
Cibulskis K, Lawrence MS, Carter SL, Sivachenko A, et al.
Nat Biotechnol. 2013 Feb 10. [Epub ahead of print]

Mutations in MED12 cause X-linked Ohdo syndrome.
Vulto-van Silfhout AT, de Vries BB, van Bon BW, Hoischen A, et al.
Am J Hum Genet. 2013 Feb 5. [Epub ahead of print]

Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation.
Rødahl E, Knappskog PM, Majewski J, Johansson S, et al.
Am J Ophthalmol. 2013 Feb 6. [Epub ahead of print]

Family-based association tests for sequence data, and comparisons with population-based association tests.
Ionita-Laza I, Lee S, Makarov V, Buxbaum JD, Lin X.
Eur J Hum Genet. 2013 Feb 6. [Epub ahead of print]

Outlier kinase expression by RNA sequencing as targets for precision therapy.
Kothari V, Wei I, Shankar S, Kalyana-Sundaram S, et al.
Cancer Discov. 2013 Feb 5. [Epub ahead of print]

Rapid deep sequencing of patient-derived HIV with ion semiconductor technology.
Chang MW, Oliveira G, Yuan J, Okulicz JF, et al.
J Virol Methods. 2013 Feb 2. [Epub ahead of print]

De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome.
Bainbridge MN, Hu H, Muzny DM, Musante L, et al.
Genome Med. 2013 Feb 5;5(2):11.

Next-generation sequencing of small RNAs from HIV-infected cells identifies phased microRNA expression patterns and candidate novel microRNAs differentially expressed upon infection.
Chang ST, Thomas MJ, Sova P, Green RR, et al.
MBio. 2013 Feb 5;4(1).

Exome sequencing of germline DNA from non-BRCA1/2 familial breast cancer cases selected on the basis of aCGH tumor profiling.
Hilbers FS, Meijers CM, Laros JF, van Galen M, et al.
PLoS One. 2013;8(1):e55734.

MRSA transmission on a neonatal intensive care unit: epidemiological and genome-based phylogenetic analyses.
Nübel U, Nachtnebel M, Falkenhorst G, Benzler J, et al.
PLoS One. 2013;8(1):e54898.

Identification of somatic and germline mutations using whole exome sequencing of congenital acute lymphoblastic leukemia.
Chang VY, Basso G, Sakamoto KM, Nelson SF.
BMC Cancer. 2013 Feb 4;13(1):55.

The Scan

Single-Cell Sequencing Points to Embryo Mosaicism

Mosaicism may affect preimplantation genetic tests for aneuploidy, a single-cell sequencing-based analysis of almost three dozen embryos in PLOS Genetics finds.

Rett Syndrome Mouse Model Study Points to RNA Editing Possibilities

Investigators targeted MECP2 in mutant mouse models of Rett syndrome, showing in PNAS that they could restore its expression and dial down symptoms.

Investigators Find Shared, Distinct Genetic Contributors to Childhood Hodgkin Lymphoma

An association study in JAMA Network Open uncovers risk variants within and beyond the human leukocyte antigen locus.

Transcriptomic, Epigenetic Study Appears to Explain Anti-Viral Effects of TB Vaccine

Researchers report in Science Advances on an interferon signature and long-term shifts in monocyte cell DNA methylation in Bacille Calmette-Guérin-vaccinated infant samples.