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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.