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Recent Clinical Sequencing Papers of Note: Oct 22, 2014

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.
Xie M, Lu C, Wang J, McLellan MD, et al.
Nat Med. 2014 Oct 19. [Epub ahead of print]


Clinical exome sequencing for genetic identification of rare Mendelian disorders.
Lee H, Deignan JL, Dorrani N, Strom SP, et al.
JAMA. 2014 Oct 18. [Epub ahead of print]


Molecular findings among patients referred for clinical whole-exome sequencing.
Yang Y, Muzny DM, Xia F, Niu Z, et al.
JAMA. 2014 Oct 18. [Epub ahead of print]


The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study.
Maruoka R, Takenouchi T, Torii C, Shimizu A, et al.
Genet Test Mol Biomarkers. 2014 Oct 17. [Epub ahead of print]


Comprehensive molecular diagnosis of a large cohort of Japanese retinitis pigmentosa and Usher syndrome patients by next-generation sequencing.
Oishi M, Oishi A, Gotoh N, Ogino K , et al.
Invest Ophthalmol Vis Sci. 2014 Oct 16. [Epub ahead of print]


Whole exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome.
Karaca E, Buyukkaya R, Pehlivan D, Charng WL, et al.
J Clin Endocrinol Metab. 2014 Oct 16 [Epub ahead of print]


Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly.
Saitsu H, Yamashita S, Tanaka Y, Tsurusaki Y, et al.
J Hum Genet. 2014 Oct 16. [Epub ahead of print]


Identification of a novel FN1-FGFR1 genetic fusion as a frequent event in phosphaturic mesenchymal tumour.
Lee JC, Jeng YM, Su SY, Wu CT, et al.
J Pathol. 2014 Oct 16. [Epub ahead of print]


Decreased bacterial diversity characterizes an altered gut microbiota in psoriatic arthritis and resembles dysbiosis of inflammatory bowel disease.
Scher JU, Ubeda C, Artacho A, Attur M, et al.
Arthritis Rheumatol. 2014 Oct 15. [Epub ahead of print]


Sequenza: allele-specific copy number and mutation profiles from tumor sequencing data.
Favero F, Joshi T, Marquard AM, Birkbak NJ, et al.
Ann Oncol. 2014 Oct 15. [Epub ahead of print]


Use of panel tests in place of single gene tests in the cancer genetics clinic.
Yorczyk A, Robinson LS, Ross TS.
Clin Genet. 2014 Oct 16. [Epub ahead of print]


Obtaining informed consent for clinical tumor and germline exome sequencing of newly diagnosed childhood cancer patients.
Scollon S, Bergstrom K, Kerstein RA, Wang T, et al.
Genome Med. 2014 Sep 17;6(9):69.


Whole exome sequencing of muscle-invasive bladder cancer identifies recurrent mutations of UNC5C and prognostic importance of DNA repair gene mutations on survival.
Yap KL, Kiyotani K, Tamura K, Antic T, et al.
Clin Cancer Res. 2014 Oct 14. [Epub ahead of print]


A missense mutation in HK1 leads to autosomal dominant retinitis pigmentosa.
Wang F, Wang Y, Zhang B, Zhao L, et al.
Invest Ophthalmol Vis Sci. 2014 Oct 14. [Epub ahead of print]


Metastatic tumor evolution and organoid modeling implicate TGFBR2 as a cancer driver in diffuse gastric cancer.
Nadauld LD, Garcia S, Natsoulis G, Bell JM, et al.
Genome Biol. 2014 Aug 27;15(8):428.


Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma.
Courcet JB, Elalaoui SC, Duplomb L, Tajir M, et al.
Eur J Hum Genet. 2014 Oct 15. [Epub ahead of print]


Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders.
Campbell IM, Yuan B, Robberecht C, Pfundt R, et al.
Am J Hum Genet. 2014 Aug 7;95(2):173-82.


Clinical massively parallel next-generation sequencing analysis of 409 cancer-related genes for mutations and copy number variations in solid tumours.
Singh RR, Patel KP, Routbort MJ, Aldape K, et al.
Br J Cancer. 2014 Oct 14. [Epub ahead of print]


Dispositional optimism and perceived risk interact to predict intentions to learn genome sequencing results.
Taber JM, Klein WM, Ferrer RA, Lewis KL, et al.
Health Psychol. 2014 Oct 13. [Epub ahead of print]


Characterization of HPV and host genome interactions in primary head and neck cancers.
Parfenov M, Pedamallu CS, Gehlenborg N, Freeman SS, et al.
Proc Natl Acad Sci U S A. 2014 Oct 13. [Epub ahead of print]


Whole-genome sequencing analysis of phenotypic heterogeneity and anticipation in Li-Fraumeni cancer predisposition syndrome.
Ariffin H, Hainaut P, Puzio-Kuter A, Choong SS4, et al.
Proc Natl Acad Sci U S A. 2014 Oct 13. [Epub ahead of print]


Maternal age effect and severe germ-line bottleneck in the inheritance of human mitochondrial DNA.
Rebolledo-Jaramillo B, Su MS, Stoler N, McElhoe JA, et al.
Proc Natl Acad Sci U S A. 2014 Oct 13. [Epub ahead of print]


Postzygotic single-nucleotide mosaicisms in whole-genome sequences of clinically unremarkable individuals.
Huang AY, Xu X, Ye AY, Wu Q, et al.
Cell Res. 2014 Oct 14. [Epub ahead of print]


Intraclonal diversity in follicular lymphoma analyzed by quantitative ultradeep sequencing of noncoding regions.
Spence JM, Abumoussa A, Spence JP, Burack WR.
J Immunol. 2014 Oct 13. [Epub ahead of print]


Whole-exome sequencing diagnosis of two autosomal recessive disorders in one family.
Takeichi T, Nanda A, Aristodemou S, McMillan JR, et al.
Br J Dermatol. 2014 Oct 11. [Epub ahead of print]


Truncating variants in the majority of the cytoplasmic domain of PCDH15 are unlikely to cause Usher syndrome 1F.
Perreault-Micale C, Frieden A, Kennedy CJ, Neitzel D, et al.
J Mol Diagn. 2014 Nov;16(6):673-8.


Circulating tumor DNA and circulating tumor cells in metastatic triple negative breast cancer patients.
Madic J, Kiialainen A, Bidard FC, Birzele F, et al.
Int J Cancer. 2014 Oct 10. [Epub ahead of print]

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