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In Print: Last Week's Clinical Sequencing Papers of Note: Aug 8, 2012


Mutations of ANK3 identified by exome sequencing are associated with autism susceptibility.
Bi C, Wu J, Jiang T, Liu Q, et al.
Hum Mutat. 2012 Aug 3. [Epub ahead of print]

A sample selection strategy for next-generation sequencing.
Kang CJ, Marjoram P.
Genet Epidemiol. 2012 Aug 3. [Epub ahead of print]

A fast and noise-resilient approach to detect rare-variant associations with deep sequencing data for complex disorders.
Cheung YH, Wang G, Leal SM, Wang S.
Genet Epidemiol. 2012 Aug 3. [Epub ahead of print]

Identification of a novel NBN truncating mutation in a family with hereditary prostate cancer.
Zuhlke KA, Johnson AM, Okoth LA, Stoffel EM, et al.
Fam Cancer. 2012 Aug 5. [Epub ahead of print]

Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome.
Haack TB, Makowski C, Yao Y, Graf E, et al.
J Inherit Metab Dis. 2012 Aug 3. [Epub ahead of print]

Exome sequencing identifies FUS mutations as a cause of essential tremor.
Merner ND, Girard SL, Catoire H, Bourassa CV, et al.
Am J Hum Genet. 2012 Aug 1. [Epub ahead of print]

Optimal unified approach for rare-variant association testing with application to small-sample case-control whole-exome sequencing studies.
Lee S, Emond MJ, Bamshad MJ, Barnes KC, et al.
Am J Hum Genet. 2012 Aug 1. [Epub ahead of print]

Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia.
Need AC, McEvoy JP, Gennarelli M, Heinzen EL, et al.
Am J Hum Genet. 2012 Aug 1. [Epub ahead of print]

A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V.
Cho TJ, Lee KE, Lee SK, Song SJ, et al.
Am J Hum Genet. 2012 Aug 1. [Epub ahead of print]

Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy.
Heinzen EL, Depondt C, Cavalleri GL, Ruzzo EK, et al.
Am J Hum Genet. 2012 Aug 1. [Epub ahead of print]

Molecular diagnosis of putative Stargardt disease probands by exome sequencing.
Strom SP, Gao YQ, Martinez A, Ortube C, et al.
BMC Med Genet. 2012 Aug 3;13(1):67.

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.
Chaki M, Airik R, Ghosh AK, Giles RH, et al.
Cell. 2012 Aug 3;150(3):533-48.

Super high resolution for single molecule-sequence-based typing of classical HLA loci at the 8-digit level using next generation sequencers.
Shiina T, Suzuki S, Ozaki Y, Taira H, et al.
Tissue Antigens. 2012 Aug 4. [Epub ahead of print]

Genome-wide analysis reveals recurrent structural abnormalities of TP63 and other p53-related genes in peripheral T-cell lymphomas.
Vasmatzis G, Johnson SH, Knudson RA, Ketterling RP, et al.
Blood. 2012 Aug 1. [Epub ahead of print]

Whole-exome sequencing studies of nonhereditary (sporadic) parathyroid adenomas.
Newey PJ, Nesbit MA, Rimmer AJ, Attar M, et al.
J Clin Endocrinol Metab. 2012 Aug 1. [Epub ahead of print]

Heterozygous de novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study.
Rosewich H, Thiele H, Ohlenbusch A, Maschke U, et al.
Lancet Neurol. 2012 Jul 27. [Epub ahead of print]

Dose-dependent effects of small-molecule antagonists on the genomic landscape of androgen receptor binding.
Zhu Z, Shi M, Hu W, Estrella H, et al.
BMC Genomics. 2012 Jul 31;13(1):355.

Complex mutations & subpopulations of deletions at exon 19 of EGFR in NSCLC revealed by next generation sequencing: potential clinical implications.
Marchetti A, Del Grammastro M, Filice G, Felicioni L, et al.
PLoS One. 2012;7(7):e42164.

DNase SISPA-next generation sequencing confirms Schmallenberg virus in Belgian field samples and identifies genetic variation in Europe.
Rosseel T, Scheuch M, Höper D, De Regge N, et al.
PLoS One. 2012;7(7):e41967.

Evaluation of persistence of resistant variants with ultra-deep pyrosequencing in chronic hepatitis C patients treated with telaprevir.
Thomas XV, de Bruijne J, Sullivan JC, Kieffer TL, et al.
PLoS One. 2012;7(7):e41191.

A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance.
Tsurusaki Y, Saitoh S, Tomizawa K, Sudo A, et al.
Neurogenetics. 2012 Jul 31. [Epub ahead of print]

Identification of novel transcripts deregulated in buccal cancer by RNA-seq.
Sajnani MR, Patel AK, Bhatt VD, Tripathi AK, et al.
Gene. 2012 Jul 27. [Epub ahead of print]

The Scan

Self-Reported Hearing Loss in Older Adults Begins Very Early in Life, Study Says

A JAMA Otolaryngology — Head & Neck Surgery study says polygenic risk scores associated with hearing loss in older adults is also associated with hearing decline in younger groups.

Genome-Wide Analysis Sheds Light on Genetics of ADHD

A genome-wide association study meta-analysis of attention-deficit hyperactivity disorder appearing in Nature Genetics links 76 genes to risk of having the disorder.

MicroRNA Cotargeting Linked to Lupus

A mouse-based study appearing in BMC Biology implicates two microRNAs with overlapping target sites in lupus.

Enzyme Involved in Lipid Metabolism Linked to Mutational Signatures

In Nature Genetics, a Wellcome Sanger Institute-led team found that APOBEC1 may contribute to the development of the SBS2 and SBS13 mutational signatures in the small intestine.