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In Print: Last Week's Clinical Sequencing Papers of Note: Jan 25, 2012


The effects of hepatitis B virus integration into the genomes of hepatocellular carcinoma patients.
Jiang Z, Jhunjhunwala S, Liu J, Haverty PM, et al.
Genome Res. 2012 Jan 20. [Epub ahead of print]

Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities.
Boyden LM, Choi M, Choate KA, Nelson-Williams CJ, et al.
Nature. 2012 Jan 22. [Epub ahead of print]

Next-generation sequencing identifies TGF-β1-associated gene expression profiles in renal epithelial cells reiterated in human diabetic nephropathy.
Brennan EP, Morine MJ, Walsh DW, Roxburgh SA, et al.
Biochim Biophys Acta. 2012 Jan 14. [Epub ahead of print]

Evaluating the genomic and sequence integrity of human ES cell lines; comparison to normal genomes.
Funk WD, Labat I, Sampathkumar J, Gourraud PA, et al.
Stem Cell Res. 2012 Mar;8(2):154-64.

Genome sequencing of pediatric medulloblastoma links catastrophic DNA rearrangements with TP53 mutations.
Rausch T, Jones DT, Zapatka M, Stütz AM, et al.
Cell. 2012 Jan 20;148(1-2):59-71.

De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause genitopatellar syndrome.
Simpson MA, Deshpande C, Dafou D, Vissers LE, et al.
Am J Hum Genet. 2012 Jan 18. [Epub ahead of print]

RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome.
Blaydon DC, Etheridge SL, Risk JM, Hennies HC, et al.
Am J Hum Genet. 2012 Jan 18. [Epub ahead of print]

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause floating-harbor syndrome.
Hood RL, Lines MA, Nikkel SM, Schwartzentruber J, et al.
Am J Hum Genet. 2012 Jan 18. [Epub ahead of print]

Mutations in KAT6B, encoding a histone acetyltransferase, cause genitopatellar syndrome.
Campeau PM, Kim JC, Lu JT, Schwartzentruber JA, et al.
Am J Hum Genet. 2012 Jan 18. [Epub ahead of print]

Exome sequencing identifies KIAA1377 and C5orf42 as susceptibility genes for monomelic amyotrophy.
Lim YM, Koh I, Park YM, Kim JJ, et al.
Neuromuscul Disord. 2012 Jan 18. [Epub ahead of print]

IGFBP-4 tumor and serum levels are increased across all stages of epithelial ovarian cancer.
Mosig RA, Lobl M, Senturk E, Shah H, et al.
J Ovarian Res. 2012 Jan 20;5(1):3. [Epub ahead of print]

Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis.
Coppieters F, Wilde BD, Lefever S, Meester ED, et al.
Genet Med. 2012 Jan 19. [Epub ahead of print]

High resolution clustering of Salmonella enterica serovar Montevideo strains using a next-generation sequencing approach.
Allard MW, Luo Y, Strain E, Li C, et al.
BMC Genomics. 2012 Jan 19;13(1):32. [Epub ahead of print]

Genomic analysis uncovers a phenotypically diverse but genetically homogeneous Escherichia coli ST131 clone circulating in unrelated urinary tract infections.
Clark G, Paszkiewicz K, Hale J, Weston V, et al.
J Antimicrob Chemother. 2012 Jan 18. [Epub ahead of print]

KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations.
Klebe S, Lossos A, Azzedine H, Mundwiller E, et al.
Eur J Hum Genet. 2012 Jan 18. [Epub ahead of print]

Discovery of variants unmasked by hemizygous deletions.
Hochstenbach R, Poot M, Nijman IJ, Renkens I, et al.
Eur J Hum Genet. 2012 Jan 18. [Epub ahead of print]

Characterization of mtDNA variation in a cohort of South African paediatric patients with mitochondrial disease.
van der Walt EM, Smuts I, Taylor RW, Elson JL, et al.
Eur J Hum Genet. 2012 Jan 18. [Epub ahead of print]

Increased sensitivity of next generation sequencing-based expression profiling after globin reduction in human blood RNA.
Mastrokolias A, den Dunnen JT, van Ommen GB, 't Hoen PA, van Roon-Mom WM.
BMC Genomics. 2012 Jan 18;13(1):28. [Epub ahead of print]

Next generation sequencing of prostate cancer from a patient identifies a deficiency of methylthioadenine phosphorylase (MTAP), an exploitable tumor target.
Collins CC, Volik SV, Lapuk A, Wang Y, et al.
Mol Cancer Ther. 2012 Jan 17. [Epub ahead of print]

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