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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

Lung Cancer Response to Checkpoint Inhibitors Reflected in Circulating Tumor DNA

In non-small cell lung cancer patients, researchers find in JCO Precision Oncology that survival benefits after immune checkpoint blockade coincide with a dip in ctDNA levels.

Study Reviews Family, Provider Responses to Rapid Whole-Genome Sequencing Follow-up

Investigators identified in the European Journal of Human Genetics variable follow-up practices after rapid whole-genome sequencing.

BMI-Related Variants Show Age-Related Stability in UK Biobank Participants

Researchers followed body mass index variant stability with genomic structural equation modeling and genome-wide association studies of 40- to 72-year olds in PLOS Genetics.

Genome Sequences Reveal Range Mutations in Induced Pluripotent Stem Cells

Researchers in Nature Genetics detect somatic mutation variation across iPSCs generated from blood or skin fibroblast cell sources, along with selection for BCOR gene mutations.