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In Print: Last Week's Clinical Sequencing Papers of Note: Jul 3, 2012


VAT: A computational framework to functionally annotate variants in personal genomes within a cloud-computing environment.
Habegger L, Balasubramanian S, Chen DZ, Khurana E, et al.
Bioinformatics. 2012 Jun 28. [Epub ahead of print]

Genome-wide microRNA expression analysis of clear cell renal cell carcinoma by next generation deep sequencing.
Osanto S, Qin Y, Buermans HP, Berkers J, et al.
PLoS One. 2012;7(6):e38298.

Landscape of somatic retrotransposition in human cancers.
Lee E, Iskow R, Yang L, Gokcumen O, et al.
Science. 2012 Jun 28. [Epub ahead of print]

nFuse: Discovery of complex genomic rearrangements in cancer using high-throughput sequencing.
McPherson AW, Wu C, Wyatt A, Shah SP, et al.
Genome Res. 2012 Jun 28. [Epub ahead of print]

Exome sequencing identifies a novel, multiple sclerosis susceptibility variant in the TYK2 gene.
Dyment DA, Cader MZ, Chao MJ, Lincoln MR, et al.
Neurology. 2012 Jun 27. [Epub ahead of print]

Exome sequencing identifies novel candidate mutations in idiopathic [scoliosis].
Moldovan F, Patten SA, Fendri K, Girard S, et al.
Stud Health Technol Inform. 2012;176:453.

PurityEst: estimating purity of human tumor samples using next-generation sequencing data.
Su X, Zhang L, Zhang J, Meric-Bernstam F, Weinstein JN.
Bioinformatics. 2012 Jun 28. [Epub ahead of print]

Non-invasive chromosomal evaluation (NICE) study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18.
Norton ME, Brar H, Weiss J, Karimi A, et al.
Am J Obstet Gynecol. 2012 Jun 1. [Epub ahead of print]

Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates.
Belaya K, Finlayson S, Slater CR, Cossins J, et al.
Am J Hum Genet. 2012 Jun 26. [Epub ahead of print]

Identification of somatic mutations in parathyroid tumors using whole-exome sequencing.
Cromer MK, Starker LF, Choi M, Udelsman R, et al.
J Clin Endocrinol Metab. 2012 Jun 27. [Epub ahead of print]

Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease.
Johnson JO, Gibbs JR, Megarbane A, Urtizberea JA, et al.
Brain. 2012 Jun 26. [Epub ahead of print]

Base-pair resolution DNA methylation sequencing reveals profoundly divergent epigenetic landscapes in acute myeloid leukemia.
Akalin A, Garrett-Bakelman FE, Kormaksson M, Busuttil J, et al.
PLoS Genet. 2012 Jun;8(6):e1002781.

Rare genetic variants and treatment response: sample size and analysis issues.
Witte JS.
Stat Med. 2012 Jun 27. [Epub ahead of print]

Mitochondrial DNA heteroplasmy in diabetes and normal adults: Role of acquired and inherited mutational patterns in twins.
Avital G, Buchshtav M, Zhikov I, Tuval Feder J, et al.
Hum Mol Genet. 2012 Jun 26. [Epub ahead of print]

A high-throughput next-generation sequencing-based method for detecting the mutational fingerprint of carcinogens.
Besaratinia A, Li H, Yoon JI, Zheng A, et al.
Nucleic Acids Res. 2012 Jun 26. [Epub ahead of print]

A personal perspective on returning secondary results of clinical genome sequencing.
Dimmock D.
Genome Med. 2012 Jun 26;4(6):54.

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