Skip to main content

In Print: Last Week's Clinical Sequencing Papers of Note: Nov 2, 2011

Premium

Next-generation sequencing identifies novel microRNAs in peripheral blood of lung cancer patients.
Keller A, Backes C, Leidinger P, et al.
Mol Biosyst. 2011 Oct 25. [Epub ahead of print]


Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA).
Vissers LE, Fano V, Martinelli D, et al.
Am J Med Genet A. 2011 Nov;155(11):2609-16.


High prevalence of BRCA1 and BRCA2 mutations in unselected Nigerian breast cancer patients.
Fackenthal JD, Zhang J, Zhang B, et al.
Int J Cancer. 2011 Oct 27;


Identification of gene fusion transcripts by transcriptome sequencing in BRCA1-mutated breast cancers and cell lines.
Ha KC, Lalonde E, Li L, et al.
BMC Med Genomics. 2011 Oct 27;4(1):75


Correcting for cancer genome size and tumor cell content enables better estimation of copy number alterations from next generation sequence data.
Gusnanto A, Wood HM, Pawitan Y, Rabbitts P, Berri S.
Bioinformatics. 2011 Oct 28. [Epub ahead of print]


Genomics really gets personal: How exome and whole genome sequencing challenge the ethical framework of human genetics research.
Tabor HK, Berkman BE, Hull SC, Bamshad MJ.
Am J Med Genet A. 2011 Oct 28. [Epub ahead of print]


Genetic diagnosis of neuroacanthocytosis disorders using exome sequencing.
Walker RH, Schulz VP, Tikhonova IR, et al.
Mov Disord. 2011 Oct 28. [Epub ahead of print]


Utility of gene-specific algorithms for predicting pathogenicity of uncertain gene variants.
Crockett DK, Lyon E, Williams MS, Narus SP, Facelli JC, Mitchell JA.
J Am Med Inform Assoc. 2011 Oct 28. [Epub ahead of print]


Exome sequencing identifies frequent mutation of ARID1A in molecular subtypes of gastric cancer.
Wang K, Kan J, Yuen ST, et al.
Nat Genet. 2011 Oct 30. [Epub ahead of print]


The Scan

Pfizer-BioNTech Seek Full Vaccine Approval

According to the New York Times, Pfizer and BioNTech are seeking full US Food and Drug Administration approval for their SARS-CoV-2 vaccine.

Viral Integration Study Critiqued

Science writes that a paper reporting that SARS-CoV-2 can occasionally integrate into the host genome is drawing criticism.

Giraffe Species Debate

The Scientist reports that a new analysis aiming to end the discussion of how many giraffe species there are has only continued it.

Science Papers Examine Factors Shaping SARS-CoV-2 Spread, Give Insight Into Bacterial Evolution

In Science this week: genomic analysis points to role of human behavior in SARS-CoV-2 spread, and more.