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In Print: Last Week's Clinical Sequencing Papers of Note: May 29, 2013

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Ultradeep pyrosequencing of hepatitis C virus hypervariable region 1 in quasispecies analysis.
Caraballo Cortés K, Zagordi O, Laskus T, Płoski R, et al.
Biomed Res Int. 2013;2013:626083.


Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusion.
Jamsheer A, Zemojtel T, Kolanczyk M, Stricker S, et al.
J Med Genet. 2013 May 24. [Epub ahead of print]


First isolation of mimivirus in a patient with pneumonia.
Saadi H, Pagnier I, Colson P, Cherif JK, et al.
Clin Infect Dis. 2013 May 24. [Epub ahead of print]


Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
Carvill GL, Heavin SB, Yendle SC, McMahon JM, et al.
Nat Genet. 2013 May 26. [Epub ahead of print]


Exome sequencing to identify de novo mutations in sporadic ALS trios.
Chesi A, Staahl BT, Jovičić A, Couthouis J, et al.
Nat Neurosci. 2013 May 26. [Epub ahead of print]


Analysis of the inheritance pattern of a Chinese family with phaeochromocytomas through whole exome sequencing.
Cao M, Sun F, Huang X, Dai J, et al.
Gene. 2013 May 22. pii: S0378-1119(13)00614-8.


Identification of maternal serum microRNAs as novel non-invasive biomarkers for prenatal detection of fetal congenital heart defects.
Zhu S, Cao L, Zhu J, Kong L, et al.
Clin Chim Acta. 2013 May 21. pii: S0009-8981(13)00206-4.


Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria.
Tort F, García-Silva MT, Ferrer-Cortès X, Navarro-Sastre A, et al.
Mol Genet Metab. 2013 May 3. pii: S1096-7192(13)00148-0.


A novel MYH7 mutation with prominent paraspinal and proximal muscle involvement.
Park JM, Kim YJ, Yoo JH, Hong YB, et al.
Neuromuscul Disord. 2013 May 23. pii: S0960-8966(13)00119-3.


Targeted deep resequencing identifies coding variants in the PEAR1 gene that play a role in platelet aggregation.
Kim Y, Suktitipat B, Yanek LR, Faraday N, et al.
PLoS One. 2013 May 21;8(5):e64179.


Comprehensive genomic characterization of cutaneous malignant melanoma cell lines derived from metastatic lesions by whole-exome sequencing and SNP array profiling.
Cifola I, Pietrelli A, Consolandi C, Severgnini M, et al.
PLoS One. 2013 May 21;8(5):e63597.


Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption.
Paciorkowski AR, Keppler-Noreuil K, Robinson L, Sullivan C, et al.
Am J Med Genet A. 2013 May 23. [Epub ahead of print]


Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomalies.
Kondo Y, Koshimizu E, Megarbane A, Hamanoue H, et al.
Am J Med Genet A. 2013 May 23. [Epub ahead of print]


Three-year experience of a CAP/ACMG methods-based external proficiency testing program for laboratories offering DNA sequencing for rare inherited disorders.
Richards CS, Palomaki GE, Lacbawan FL, Lyon E, Feldman GL.
Genet Med. 2013 May 23. [Epub ahead of print]


Non invasive prenatal testing of fetal aneuploidies by massively parallel sequencing in a prospective Chinese population.
Song Y, Liu C, Qi H, Zhang Y, et al.
Prenat Diagn. 2013 May 22. [Epub ahead of print]


Non invasive prenatal testing of fetal aneuploidies by massively parallel sequencing in a prospective Chinese population.
Song Y, Liu C, Qi H, Zhang Y, et al.
Prenat Diagn. 2013 May 22. [Epub ahead of print]


Detailed molecular characterisation of acute myeloid leukaemia with a normal karyotype using targeted DNA capture.
Conte N, Varela I, Grove C, Manes N, et al.
Leukemia. 2013 Apr 18. [Epub ahead of print]


Dynamic and rapid changes in viral quasispecies by UDPS in chronic hepatitis C patients receiving telaprevir-based therapy.
Trimoulet P, Pinson P, Papuchon J, Foucher J, et al.
Antivir Ther. 2013 May 23. [Epub ahead of print]


The sequential analysis of amino acid substitutions with hepatitis B virus in association with nucleos(t)ide analogue treatment detecting by deep sequencing.
Ninomiya M, Kondo Y, Niihori T, Nagashima T, et al.
Hepatol Res. 2013 May 24. [Epub ahead of print]


Targeted sequencing of cancer-related genes in colorectal cancer using next-generation sequencing.
Han SW, Kim HP, Shin JY, Jeong EG, et al.
PLoS One. 2013 May 21;8(5):e64271.


Mapping and exome sequencing identifies a mutation in the IARS gene as the cause of hereditary perinatal weak calf syndrome.
Hirano T, Kobayashi N, Matsuhashi T, Watanabe D, et al.
PLoS One. 2013 May 21;8(5):e64036.


New subtype of spinocerebellar ataxia with altered vertical eye movements mapping to chromosome 1p32.
Serrano-Munuera C, Corral-Juan M, Stevanin G, San Nicolás H, et al.
JAMA Neurol. 2013 Apr 29:1-8. [Epub ahead of print]


A novel OPA3 mutation revealed by exome sequencing: an example of reverse phenotyping.
Arif B, Kumar KR, Seibler P, Vulinovic F, et al.
JAMA Neurol. 2013 Apr 29:1-5. [Epub ahead of print]


Clinical application of whole-exome sequencing: a novel autosomal recessive spastic ataxia of Charlevoix-Saguenay sequence variation in a child with ataxia.
Liew WK, Ben-Omran T, Darras BT, Prabhu SP, et al.
JAMA Neurol. 2013 Apr 29:1-4. [Epub ahead of print]


Mutational and structural analysis of diffuse large B-cell lymphoma using whole genome sequencing.
Morin RD, Mungall K, Pleasance E, Mungall AJ, et al.
Blood. 2013 May 22. [Epub ahead of print]


Real-time genomic epidemiology of human Campylobacter isolates using whole genome multilocus sequence typing.
Cody AJ, McCarthy ND, Jansen van Rensburg M, Isinkaye T, et al.
J Clin Microbiol. 2013 May 22. [Epub ahead of print]


Negligible impact of rare autoimmune-locus coding-region variants on missing heritability.
Hunt KA, Mistry V, Bockett NA, Ahmad T, et al.
Nature. 2013 May 22. [Epub ahead of print]


Identification of multiple complex rearrangements associated with deletions in the 6q23-27 region in Sézary syndrome.
Iżykowska K, Zawada M, Nowicka K, Grabarczyk P, et al.
J Invest Dermatol. 2013 Apr 18. [Epub ahead of print]


Comparison of microRNA deep sequencing of matched formalin-fixed paraffin-embedded and fresh frozen cancer tissues.
Meng W, McElroy JP, Volinia S, Palatini J, et al.
PLoS One. 2013 May 16;8(5):e64393.


Clinical Genomic Database.
Solomon BD, Nguyen AD, Bear KA, Wolfsberg TG.
Proc Natl Acad Sci U S A. 2013 May 21. [Epub ahead of print]


Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels.
Albuisson J, Murthy SE, Bandell M, Coste B, et al.
Nat Commun. 2013;4:1884.


Whole-genome sequencing and analysis of the autoimmunity and inflammation phenotypically dichotomous DA and F344 rats.
Guo X, Brenner M, Zhang X, Laragione T, et al.
Genetics. 2013 May 20. [Epub ahead of print]


Novel compound heterozygous mutations of POLR3A revealed by whole-exome sequencing in a patient with hypomyelination.
Shimojima K, Shimada S, Tamasaki A, Akaboshi S, et al.
Brain Dev. 2013 May 18. pii: S0387-7604(13)00160-5.


Genetic variation in MKL2 and decreased downstream PCTAIRE1 expression in extreme, fatal primary human microcephaly.
Ramos EI, Bien-Willner GA, Li J, Hughes AE, et al.
Clin Genet. 2013 May 21. [Epub ahead of print]


Novel compound heterozygous TMC1 mutations associated with autosomal recessive hearing loss in a Chinese family.
Gao X, Su Y, Guan LP, Yuan YY, et al.
PLoS One. 2013 May 14;8(5):e63026.


Analysis of tumor heterogeneity and cancer gene networks using deep sequencing of MMTV-induced mouse mammary tumors.
Klijn C, Koudijs MJ, Kool J, Ten Hoeve J, et al.
PLoS One. 2013 May 14;8(5):e62113.


Ultra-rare mutation in long-range enhancer predisposes to thyroid carcinoma with high penetrance.
He H, Li W, Wu D, Nagy R, et al.
PLoS One. 2013 May 14;8(5):e61920.

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