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In Print: Last Week's Clinical Sequencing Papers of Note: Jul 17, 2013

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Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders.
Bannwarth S, Procaccio V, Lebre AS, Jardel C, et al.
J Med Genet. 2013 Jul 11. [Epub ahead of print]


Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.
Wang X, Wang H, Sun V, Tuan HF, et al.
J Med Genet. 2013 Jul 11. [Epub ahead of print]


Stakeholders' opinions on the implementation of pediatric whole exome sequencing: implications for informed consent.
Levenseller BL, Soucier DJ, Miller VA, Harris D, et al.
J Genet Couns. 2013 Jul 12. [Epub ahead of print]


Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease.
Kim HJ, Hong YB, Park JM, Choi YR, et al.
Orphanet J Rare Dis. 2013 Jul 12;8(1):104.


Whole-exome sequencing expands the phenotype of Hunter syndrome.
Nikkel SM, Huang L, Lachman R, Beaulieu CL, et al.
Clin Genet. 2013 Jul 11. [Epub ahead of print]


On the ethics of clinical whole genome sequencing of children.
May T, Zusevics KL, Strong KA.
Pediatrics. 2013 Jul 8. [Epub ahead of print]


Comprehensive analysis of microRNA profiles in multiple sclerosis including next-generation sequencing.
Keller A, Leidinger P, Steinmeyer F, Stähler C, et al.
Mult Scler. 2013 Jul 8. [Epub ahead of print]


Mutations in gamma adducin are associated with inherited cerebral palsy.
Kruer MC, Jepperson T, Dutta S, Steiner RD, et al.
Ann Neurol. 2013 Jul 9. [Epub ahead of print]


Mitochondrial encephalomyopathy due to a novel mutation in ACAD9.
Garone C, Donati MA, Sacchini M, Garcia-Diaz B, et al.
JAMA Neurol. 2013 Jul 8:1-3. [Epub ahead of print]


Detecting splicing variants in idiopathic pulmonary fibrosis from non-differentially expressed genes.
Deng N, Sanchez CG, Lasky JA, Zhu D.
PLoS One. 2013 Jul 2;8(7):e68352.


Using high-throughput sequencing to leverage surveillance of genetic diversity and oseltamivir resistance: a pilot study during the 2009 influenza A(H1N1) pandemic.
Téllez-Sosa J, Rodríguez MH, Gómez-Barreto RE, Valdovinos-Torres H, et al.
PLoS One. 2013 Jul 2;8(7):e67010.


dbNSFP v2.0: A database of human non-synonymous SNVs and their functional predictions and annotations.
Liu X, Jian X, Boerwinkle E.
Hum Mutat. 2013 Jul 10. [Epub ahead of print]


STK10 missense mutations associated with anti-apoptotic function.
Fukumura K, Yamashita Y, Kawazu M, Sai E, et al.
Oncol Rep. 2013 Jul 9. [Epub ahead of print]


A comparative analysis of algorithms for somatic SNV detection in cancer.
Roberts ND, Kortschak RD, Parker WT, Schreiber AW, et al.
Bioinformatics. 2013 Jul 9. [Epub ahead of print]


Culture-independent sequence analysis of Chlamydia trachomatis in urogenital specimens identifies regions of recombination and in-patient sequence mutations.
Putman TE, Suchland RJ, Ivanovitch JD, Rockey DD.
Microbiology. 2013 Jul 10. [Epub ahead of print]


HLA haplotyping from RNA-seq data using hierarchical read weighting.
Kim HJ, Pourmand N.
PLoS One. 2013 Jun 28;8(6):e67885.


Extensive variation in gene copy number at the killer immunoglobulin-like receptor locus in humans.
Vendelbosch S, de Boer M, Gouw RA, Ho CK, et al.
PLoS One. 2013 Jun 28;8(6):e67619.


Noninvasive prenatal detection for pathogenic CNVs: the application in α-thalassemia.
Ge H, Huang X, Li X, Chen S, et al.
PLoS One. 2013 Jun 28;8(6):e67464.


Autosomal recessive transmission of MYBPC3 mutation results in malignant phenotype of hypertrophic cardiomyopathy.
Wang Y, Wang Z, Yang Q, Zou Y, et al.
PLoS One. 2013 Jun 28;8(6):e67087.


Connectivity mapping for candidate therapeutics identification using next generation sequencing RNA-seq data.
McArt DG, Dunne PD, Blayney JK, Salto-Tellez M, et al.
PLoS One. 2013 Jun 26;8(6):e66902.


RNA-seq differentiates tumour and host mRNA expression changes induced by treatment of human tumour xenografts with the VEGFR tyrosine kinase inhibitor cediranib.
Bradford JR, Farren M, Powell SJ, Runswick S, et al.
PLoS One. 2013 Jun 19;8(6):e66003.


Unbiased approach for virus detection in skin lesions.
Bzhalava D, Johansson H, Ekström J, Faust H, et al.
PLoS One. 2013 Jun 28;8(6):e65953.


Read and assembly metrics inconsequential for clinical utility of whole-genome sequencing in mapping outbreaks.
Harris SR, Török ME, Cartwright EJ, Quail MA, et al.
Nat Biotechnol. 2013 Jul 9;31(7):592-4.


Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations.
Elsayed SM, Heller R, Thoenes M, Zaki MS, et al.
Eur J Hum Genet. 2013 Jul 10. [Epub ahead of print]


On the ethics of clinical whole genome sequencing of children.
May T, Zusevics KL, Strong KA.
Pediatrics. 2013 Jul 8. [Epub ahead of print]


Comprehensive analysis of microRNA profiles in multiple sclerosis including next-generation sequencing.
Keller A, Leidinger P, Steinmeyer F, Stähler C, et al.
Mult Scler. 2013 Jul 8. [Epub ahead of print]


Functional genomic screen of human stem cell differentiation reveals pathways involved in neurodevelopment and neurodegeneration.
Zhang Y, Schulz VP, Reed BD, Wang Z, et al.
Proc Natl Acad Sci U S A. 2013 Jul 8. [Epub ahead of print]


Mutations in gamma adducin are associated with inherited cerebral palsy.
Kruer MC, Jepperson T, Dutta S, Steiner RD, et al.
Ann Neurol. 2013 Jul 9. [Epub ahead of print]


Mitochondrial encephalomyopathy due to a novel mutation in ACAD9.
Garone C, Donati MA, Sacchini M, Garcia-Diaz B, et al.
JAMA Neurol. 2013 Jul 8:1-3. [Epub ahead of print]


Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria.
Marcadier JL, Smith AM, Pohl D, Schwartzentruber J, et al.
Orphanet J Rare Dis. 2013 Jul 9;8(1):98.


Family-based studies to identify genetic variants that cause congenital heart defects.
Arrington CB, Bleyl SB, Brunelli L, Bowles NE.
Future Cardiol. 2013 Jul;9(4):507-18.

The Scan

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Purnell Choppin Dies

Purnell Choppin, a virologist who led the Howard Hughes Medical Institute, has died at 91, according to the Washington Post.