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In Print: Last Week's Clinical Sequencing Papers of Note: Oct 9, 2013


Improved detection of rare HIV-1 variants using 454 pyrosequencing.
Larsen BB, Chen L, Maust BS, Kim M, et al.
PLOS One. 2013 Oct 2;8(10):e76502.

Sensitive detection of viral transcripts in human tumor transcriptomes.
Schelhorn SE, Fischer M, Tolosi L, Altmüller J, et al.
PLOS Comput Biol. 2013 Oct;9(10):e1003228.

Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes.
Flannick J, Beer NL, Bick AG, Agarwala V, et al.
Nat Genet. 2013 Oct 6. [Epub ahead of print]

Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene.
Malfatti E, Schaeffer U, Chapon F, Yang Y, et al.
Neuromuscul Disord. 2013 Oct 1. pii: S0960-8966(13)00546-4.

Mutations in AGBL1 cause dominant late-onset Fuchs corneal dystrophy and alter protein-protein interaction with TCF4.
Riazuddin SA, Vasanth S, Katsanis N, Gottsch JD.
Am J Hum Genet. 2013 Oct 3;93(4):758-764.

Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Poultney CS, Goldberg AP, Drapeau E, Kou Y, et al.
Am J Hum Genet. 2013 Oct 3;93(4):607-619.

A clinically validated diagnostic second-generation sequencing assay for detection of hereditary BRCA1 and BRCA2 mutations.
Bosdet IE, Docking TR, Butterfield YS, Mungall AJ, et al.
J Mol Diagn. 2013 Sep 25. [Epub ahead of print]

RYR1 mutations as a cause of ophthalmoplegia, facial weakness, and malignant hyperthermia.
Shaaban S, Ramos-Platt L, Gilles FH, Chan WM, et al.
JAMA Ophthalmol. 2013 Oct 3. [Epub ahead of print]

Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood.
Ohba C, Osaka H, Iai M, Yamashita S, et al.
Neurogenetics. 2013 Oct 4. [Epub ahead of print]

Exome sequencing identifies novel compound heterozygous mutations in SPG11 that cause autosomal recessive hereditary spastic paraplegia.
Zhao W, Zhu QY, Zhang JT, Liu H, et al.
J Neurol Sci. 2013 Sep 10. [Epub ahead of print]

Novel CIC point mutations and an exon-spanning, homozygous deletion identified in oligodendroglial tumors by a comprehensive genomic approach including transcriptome sequencing.
Eisenreich S, Abou-El-Ardat K, Szafranski K, Campos Valenzuela JA, et al.
PLOS One. 2013 Sep 27;8(9):e76623.

Novel FIG4 mutations in Yunis-Varon syndrome.
Nakajima J, Okamoto N, Shiraishi J, Nishimura G, et al.
J Hum Genet. 2013 Oct 3. [Epub ahead of print]

Clinical whole-exome sequencing for the diagnosis of Mendelian disorders.
Yang Y, Muzny DM, Reid JG, Bainbridge MN, et al.
N Engl J Med. 2013 Oct 2. [Epub ahead of print]

CCBE1 mutation in two siblings, one manifesting Lymphedema-Cholestasis syndrome, and the other, fetal hydrops.
Shah S, Conlin LK, Gomez L, Aagenaes O, et al.
PLOS One. 2013 Sep 26;8(9):e75770.

Identification of new drug targets and resistance mechanisms in Mycobacterium tuberculosis.
Ioerger TR, O'Malley T, Liao R, Guinn KM, et al.
PLOS One. 2013 Sep 23;8(9):e75245.

Next-generation sequence analysis of cancer xenograft models.
Rossello FJ, Tothill RW, Britt K, Marini KD, et al.
PLOS One. 2013 Sep 26;8(9):e74432.

Gene regulatory networks elucidating Huanglongbing disease mechanisms.
Martinelli F, Reagan RL, Uratsu SL, Phu ML, et al.
PLOS One. 2013 Sep 25;8(9):e74256.

Exome sequencing reveals a thrombopoietin ligand mutation in a Micronesian family with autosomal recessive aplastic anemia.
Dasouki MJ, Rafi SK, Olm-Shipman AJ, Wilson NR, et al.
Blood. 2013 Oct 1. [Epub ahead of print]

Ultra-deep sequencing confirms immunohistochemistry as a highly sensitive and specific method for detecting BRAF V600E mutations in colorectal carcinoma.
Rössle M, Sigg M, Rüschoff JH, Wild PJ, et al.
Virchows Arch. 2013 Oct 2. [Epub ahead of print]

B3GALNT2 is a gene associated with congenital muscular dystrophy with brain malformations.
Hedberg C, Oldfors A, Darin N.
Eur J Hum Genet. 2013 Oct 2. [Epub ahead of print]

Mutation of fibulin-1 causes a novel syndrome involving the central nervous system and connective tissues.
Bohlega S, Al-Ajlan H, Al-Saif A.
Eur J Hum Genet. 2013 Oct 2. [Epub ahead of print]

Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa.
Siemiatkowska AM, Ingeborgh van den Born L, Martin van Hagen P, Stoffels M, et al.
Ophthalmology. 2013 Sep 28. [Epub ahead of print]

Microcephaly thin corpus callosum ID syndrome caused by mutated TAF2.
Hellman-Aharony S, Smirin-Yosef P, Halevy A, Pasmanik-Chor M, et al.
Pediatr Neurol. 2013 Sep 28. [Epub ahead of print]

Tmem79/Matt is the matted mouse gene and is a predisposing gene for atopic dermatitis in human subjects.
Saunders SP, Goh CS, Brown SJ, Palmer CN, et al.
J Allergy Clin Immunol. 2013 Sep 28. [Epub ahead of print]

Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech.
Worthey EA, Raca G, Laffin JJ, Wilk BM, et al.
J Neurodev Disord. 2013 Oct 2;5(1):29.

Personalized genomic disease risk of volunteers.
Gonzalez-Garay ML, McGuire AL, Pereira S, Caskey CT.
Proc Natl Acad Sci U S A. 2013 Sep 30. [Epub ahead of print]

The role of ABCA1 gene sequence variants on risk of Alzheimer's disease.
Lupton MK, Proitsi P, Lin K, Hamilton G, et al.
J Alzheimers Dis. 2013 Sep 30. [Epub ahead of print]

Next-generation sequence analysis of genes associated with obesity and nonalcoholic fatty liver disease-related cirrhosis in extreme obesity.
Gerhard GS, Chu X, Wood GC, Gerhard GM, et al.
Hum Hered. 2013;75(2-4):144-151.

Mutation in CYP27A1 identified in family with coronary artery disease.
Inanloorahatloo K, Zand Parsa AF, Huse K, Rasooli P, et al.
Eur J Med Genet. 2013 Sep 27. [Epub ahead of print]

Mutations in the mitochondrial gene C12ORF65 lead to syndromic autosomal recessive intellectual disability and show genotype phenotype correlation.
Buchert R, Uebe S, Radwan F, Tawamie H, et al.
Eur J Med Genet. 2013 Sep 27. [Epub ahead of print]