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


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

Study Reveals New Details About Genetics of Major Cause of Female Infertility

Researchers in Nature Medicine conducted a whole-exome sequencing study of mote than a thousand patients with premature ovarian insufficiency.

Circulating Tumor DNA Shows Potential as Biomarker in Rare Childhood Cancer

A study in the Journal of Clinical Oncology has found that circulating tumor DNA levels in rhabdomyosarcoma may serve as a biomarker for prognosis.

Study Recommends Cancer Screening for Dogs Beginning Age Seven, Depending on Breed

PetDx researchers report in PLOS One that annual cancer screening for dogs should begin by age seven.

White-Tailed Deer Harbor SARS-CoV-2 Variants No Longer Infecting Humans, Study Finds

A new study in PNAS has found that white-tailed deer could act as a reservoir of SARS-CoV-2 variants no longer found among humans.