Skip to main content
Premium Trial:

Request an Annual Quote

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


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]

The Scan

Booster Push

New data shows a decline in SARS-CoV-2 vaccine efficacy over time, which the New York Times says Pfizer is using to argue its case for a booster, even as the lower efficacy remains high.

With Help from Mr. Fluffington, PurrhD

Cats could make good study animals for genetic research, the University of Missouri's Leslie Lyons tells the Atlantic.

Man Charged With Threatening to Harm Fauci, Collins

The Hill reports that Thomas Patrick Connally, Jr., was charged with making threats against federal officials.

Nature Papers Present Approach to Find Natural Products, Method to ID Cancer Driver Mutations, More

In Nature this week: combination of cryogenic electron microscopy with genome mining helps uncover natural products, driver mutations in cancer, and more.