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In Print: Last Week's Clinical Sequencing Papers of Note: Nov 7, 2012

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Clinical implications of human population differences in genome-wide rates of functional genotypes.
Torkamani A, Pham P, Libiger O, Bansal V, et al.
Front Genet. 2012;3:211. Epub 2012 Nov 1.


A novel, privacy-preserving cryptographic approach for sharing sequencing data.
Cassa CA, Miller RA, Mandl KD.
J Am Med Inform Assoc. 2012 Nov 2. [Epub ahead of print]


Somatic rearrangements across cancer reveal classes of samples with distinct patterns of DNA breakage and rearrangement-induced hypermutability.
Drier Y, Lawrence MS, Carter SL, Stewart C, et al.
Genome Res. 2012 Nov 2. [Epub ahead of print]


Exome-based linkage disequilibrium maps of individual genes: functional clustering and relationship to disease.
Gibson J, Tapper W, Ennis S, Collins A.
Hum Genet. 2012 Nov 4. [Epub ahead of print]


High resolution size analysis of fetal DNA in the urine of pregnant women by paired-end massively parallel sequencing.
Tsui NB, Jiang P, Chow KC, Su X, et al.
PLoS One. 2012;7(10):e48319.


Noninvasive prenatal determination of twin zygosity by maternal plasma DNA analysis.
Qu JZ, Leung TY, Jiang P, Liao GJ, et al.
Clin Chem. 2012 Oct 31. [Epub ahead of print]


Low-level persistence of drug-resistance mutations in hepatitis B virus-infected subjects with a past history of lamivudine treatment.
Margeridon-Thermet S, Svarovskaia ES, Babrzadeh F, Martin R, et al.
Antimicrob Agents Chemother. 2012 Oct 31. [Epub ahead of print]


DGAT1 mutation is linked to a congenital diarrheal disorder.
Haas JT, Winter HS, Lim E, Kirby A, et al.
J Clin Invest. 2012 Nov 1. [Epub ahead of print]


Applying genomic analysis to newborn screening.
Solomon BD, Pineda-Alvarez DE, Bear KA, Mullikin JC, et al.
Mol Syndromol. 2012 Aug;3(2):59-67.


Uniparental disomy analysis in trios using genome-wide SNP array and whole-genome sequencing data imply segmental uniparental isodisomy in general populations.
Sasaki K, Mishima H, Miura K, Yoshiura KI.
Gene. 2012 Oct 27. [Epub ahead of print]


Identification of PADI2 as a potential breast cancer biomarker and therapeutic target.
McElwee JL, Mohanan S, Griffith OL, Breuer HC, et al.
BMC Cancer. 2012 Oct 30;12(1):500.


Mutation analysis of BRCA1, BRCA2, PALB2 and BRD7 in a hospital-based series of German patients with triple-negative breast cancer.
Pern F, Bogdanova N, Schürmann P, Lin M, et al.
PLoS One. 2012;7(10):e47993.


Fetal fraction in maternal plasma cell-free DNA at 11-13 weeks' gestation: relation to maternal and fetal characteristics.
Ashoor G, Syngelaki A, Poon L, Rezende J, Nicolaides K.
Ultrasound Obstet Gynecol. 2012 Oct 25. [Epub ahead of print]


Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci.
Zimmermann B, Hill M, Gemelos G, Demko Z, et al.
Prenat Diagn. 2012 Oct 30:1-9. [Epub ahead of print]


Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population.
Nicolaides KH, Syngelaki A, Ashoor G, Birdir C, Touzet G.
J Obstet Gynecol. 2012 Nov;207(5):374.e1-6.


Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.
Abu-Safieh L, Alrashed M, Anazi S, Alkuraya H, et al.
Genome Res. 2012 Oct 26. [Epub ahead of print]


Whole-exome sequencing identifies ATRX mutation as a key molecular determinant in lower-grade glioma.
Kannan K, Inagaki A, Silber J, Gorovets D, et al.
Oncotarget. 2012 Oct 11. [Epub ahead of print]


Exome sequencing of serous endometrial tumors identifies recurrent somatic mutations in chromatin-remodeling and ubiquitin ligase complex genes.
Gallo ML, O'Hara AJ, Rudd ML, Urick ME, et al.
Nat Genet. 2012 Oct 28. [Epub ahead of print]


A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancer.
Gudmundsson J, Sulem P, Gudbjartsson DF, Masson G, et al.
Nat Genet. 2012 Oct 28. [Epub ahead of print]


Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes.
Biankin AV, Waddell N, Kassahn KS, Gingras MC, et al.
Nature. 2012 Oct 24. [Epub ahead of print]


In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.
Carmignac V, Thevenon J, Adès L, Callewaert B, et al.
Am J Hum Genet. 2012 Oct 23. [Epub ahead of print]

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