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In Print: Last Week's Clinical Sequencing Papers of Note: Nov 16, 2011

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Parallel bacterial evolution within multiple patients identifies candidate pathogenicity genes.

Lieberman TD, Michel JB, Aingaran M, Potter-Bynoe G, et al.
Nat Genet. 2011 Nov 13. [Epub ahead of print]



A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma.

Yokoyama S, Woods SL, Boyle GM, Aoude LG, et al.
Nature. 2011 Nov 13. [Epub ahead of print]



Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.

Clayton-Smith J, O'Sullivan J, Daly S, Bhaskar S, et al.
Am J Hum Genet. 2011 Nov 11;89(5):675-81.



Ethical considerations associated with clinical use of next-generation sequencing in children.

Lantos JD, Artman M, Kingsmore SF.
J Pediatr. 2011 Dec;159(6):879-880.e1.


Sequence-based analysis uncovers an abundance of non-coding RNA in the total transcriptome of Mycobacterium tuberculosis.
Arnvig KB, Comas I, Thomson NR, Houghton J, et al.
PLoS Pathog. 2011 Nov;7(11):e1002342.


Next generation sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation.
Tucker EJ, Mimaki M, Compton AG, McKenzie M, et al.
Hum Mutat. 2011 Nov 9. [Epub ahead of print]


Noninvasive prenatal diagnosis of common fetal chromosomal aneuploidies by maternal plasma DNA sequencing.
Lau TK, Chen F, Pan X, Pooh RK, et al.
J Matern Fetal Neonatal Med. 2011 Nov 10. [Epub ahead of print]


Genome-wide binding map of the HIV-1 Tat protein to the human genome.
Marban C, Su T, Ferrari R, Li B, et al.
PLoS One. 2011;6(11):e26894.


Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis.
Benitez BA, Alvarado D, Cai Y, Mayo K, et al.
PLoS One. 2011;6(11):e26741.


An evaluation of different target enrichment methods in pooled sequencing designs for complex disease association studies.
Day-Williams AG, McLay K, Drury E, Edkins S, et al.
PLoS One. 2011;6(11):e26279.


Colonic mucosa-associated microbiota is influenced by an interaction of Crohn disease and FUT2 (Secretor) genotype.
Rausch P, Rehman A, Künzel S, Häsler R, et al.
Proc Natl Acad Sci U S A. 2011 Nov 8. [Epub ahead of print]


Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects.
Khan K, Logan CV, McKibbin M, Sheridan E, et al.
Mol Genet. 2011 Nov 7. [Epub ahead of print]


Comparison of bacterial microbiota in skin biopsies from normal and psoriatic skin.
Fahlén A, Engstrand L, Baker BS, Powles A, Fry L.
Arch Dermatol Res. 2011 Nov 8. [Epub ahead of print]


A novel locus for autosomal dominant congenital motor nystagmus mapped to 1q31-q32.2 between D1S2816 and D1S2692.
Xiao X, Li S, Guo X, Zhang Q.
Hum Genet. 2011 Nov 8. [Epub ahead of print]

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