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In Print: Last Week's Clinical Sequencing Papers of Note: Apr 11, 2012


Comparison of the gut microbe profiles and numbers between patients with liver cirrhosis and healthy individuals.
Liu J, Wu D, Ahmed A, Li X, et al.
Curr Microbiol. 2012 Apr 7. [Epub ahead of print]

Exome sequencing of gastric adenocarcinoma identifies recurrent somatic mutations in cell adhesion and chromatin remodeling genes.
Zang ZJ, Cutcutache I, Poon SL, Zhang SL, et al.
Nat Genet. 2012 Apr 8. [Epub ahead of print]

Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish.
Asharani PV, Keupp K, Semler O, Wang W, et al.
Am J Hum Genet. 2012 Apr 6;90(4):661-74.

Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing.
Itsara A, Vissers LE, Steinberg KM, Meyer KJ, et al.
Am J Hum Genet. 2012 Apr 6;90(4):599-613.

Communicating new knowledge on previously reported genetic variants.
Aronson SJ, Clark EH, Varugheese M, Baxter S, et al.
Genet Med. 2012 Apr 5. [Epub ahead of print]

A low-cost exon capture method suitable for large-scale screening of genetic deafness by the massively-parallel sequencing approach.
Tang W, Qian D, Ahmad S, Mattox D, et al.
Genet Test Mol Biomarkers. 2012 Apr 5. [Epub ahead of print]

Genome wide analysis of acute myeloid leukemia reveal leukemia specific methylome and subtype specific hypomethylation of repeats.
Saied MH, Marzec J, Khalid S, Smith P, et al.
PLoS One. 2012;7(3):e33213.

Exome sequencing identifies novel compound heterozygous mutations of IL-10 receptor 1 in neonatal-onset Crohn's disease.
Mao H, Yang W, Lee PP, Ho MH, et al.
Genes Immun. 2012 Apr 5. [Epub ahead of print]

Deep resequencing and association analysis of schizophrenia candidate genes.
Crowley JJ, Hilliard CE, Kim Y, Morgan MB, et al.
Mol Psychiatry. 2012 Apr 3. [Epub ahead of print]

High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease.
Pottier C, Hannequin D, Coutant S, Rovelet-Lecrux A, et al.
Mol Psychiatry. 2012 Apr 3. [Epub ahead of print]

Identification of novel coding mutation in C1qA gene in an African-American pedigree with lupus and C1q deficiency.
Namjou B, Keddache M, Fletcher D, Dillon S, et al.
Lupus. 2012 Apr 3. [Epub ahead of print]

Circulating microRNA profiles as potential biomarkers for diagnosis of papillary thyroid carcinoma.
Yu S, Liu Y, Wang J, Guo Z, et al.
J Clin Endocrinol Metab. 2012 Apr 3. [Epub ahead of print]

The predictive capacity of personal genome sequencing.
Roberts NJ, Vogelstein JT, Parmigiani G, Kinzler KW, et al.
Sci Transl Med. 2012 Apr 2. [Epub ahead of print]

Confirmation of an epilepsy modifier locus on mouse chromosome 11 and candidate gene analysis by RNA-seq.
Hawkins NA, Kearney JA.
Genes Brain Behav. 2012 Apr 4. [Epub ahead of print]

EBV and human microRNAs co-target oncogenic and apoptotic viral and human genes during latency.
Riley KJ, Rabinowitz GS, Yario TA, Luna JM, et al.
EMBO J. 2012 Mar 30. [Epub ahead of print]

Whole genome expression differences in human left and right atria ascertained by RNA-sequencing.
Hsu J, Hanna P, Van Wagoner DR, Barnard J, et al.
Circ Cardiovasc Genet. 2012 Apr 3. [Epub ahead of print]

Whole exome sequencing to identify a novel gene (Caveolin-1) associated with human pulmonary arterial hypertension.
Austin ED, Ma L, Leduc C, Berman Rosenzweig E, et al.
Circ Cardiovasc Genet. 2012 Apr 2. [Epub ahead of print]

The Scan

Study Points to Tuberculosis Protection by Gaucher Disease Mutation

A mutation linked to Gaucher disease in the Ashkenazi Jewish population appears to boost Mycobacterium tuberculosis resistance in a zebrafish model of the lysosomal storage condition, a new PNAS study finds.

SpliceVault Portal Provides Look at RNA Splicing Changes Linked to Genetic Variants

The portal, described in Nature Genetics, houses variant-related messenger RNA splicing insights drawn from RNA sequencing data in nearly 335,700 samples — a set known as the 300K-RNA resource.

Automated Sequencing Pipeline Appears to Allow Rapid SARS-CoV-2 Lineage Detection in Nevada Study

Researchers in the Journal of Molecular Diagnostics describe and assess a Clear Labs Dx automated workflow, sequencing, and bioinformatic analysis method for quickly identifying SARS-CoV-2 lineages.

UK Team Presents Genetic, Epigenetic Sequencing Method

Using enzymatic DNA preparation steps, researchers in Nature Biotechnology develop a strategy for sequencing DNA, along with 5-methylcytosine and 5-hydroxymethylcytosine, on existing sequencers.