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In Print: Last Week's Clinical Sequencing Papers of Note: Sep 4, 2013


Array comparative genomic hybridization and sequencing of 23 genes in 80 patients with myelofibrosis at chronic or acute phase.
Brecqueville M, Rey J, Devillier R, Guille A, et al.
Haematologica. 2013 Aug 30. [Epub ahead of print]

A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2.
Isojima T, Doi K, Mitsui J, Oda Y, et al.
J Bone Miner Res. 2013 Aug 31. [Epub ahead of print]

Genome sequencing of 161 Mycobacterium tuberculosis isolates from China identifies genes and intergenic regions associated with drug resistance.
Zhang H, Li D, Zhao L, Fleming J, et al.
Nat Genet. 2013 Sep 1. [Epub ahead of print]

Genomic analysis identifies targets of convergent positive selection in drug-resistant Mycobacterium tuberculosis.
Farhat MR, Shapiro BJ, Kieser KJ, Sultana R, et al.
Nat Genet. 2013 Sep 1. [Epub ahead of print]

Mutations in IMPG1 cause vitelliform macular dystrophies.
Manes G, Meunier I, Avila-Fernández A, Banfi S, et al.
Am J Hum Genet. 2013 Aug 29. [Epub ahead of print]

Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects.
Kott E, Legendre M, Copin B, Papon JF, et al.
Am J Hum Genet. 2013 Aug 27. [Epub ahead of print]

De novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy.
Nakamura K, Kodera H, Akita T, Shiina M, et al.
Am J Hum Genet. 2013 Aug 27. [Epub ahead of print]

Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy.
Gai X, Ghezzi D, Johnson MA, Biagosch CA, et al.
Am J Hum Genet. 2013 Aug 29. [Epub ahead of print]

Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance.
Bonnen PE, Yarham JW, Besse A, Wu P, et al.
Am J Hum Genet. 2013 Aug 27. [Epub ahead of print]

Patient-specific iPSC-derived photoreceptor precursor cells as a means to investigate retinitis pigmentosa.
Tucker BA, Mullins RF, Streb LM, Anfinson K, et al.
Elife. 2013 Aug 27;2:e00824.

Breakpoint features of genomic rearrangements in neuroblastoma with unbalanced translocations and chromothripsis.
Boeva V, Jouannet S, Daveau R, Combaret V, et al.
PLOS One. 2013 Aug 26;8(8):e72182.

Frequency of rare allelic variation in candidate genes among individuals with low and high urinary calcium excretion.
Toka HR, Genovese G, Mount DB, Pollak MR, Curhan GC.
PLOS One. 2013 Aug 26;8(8):e71885.

Diagnostic application of targeted resequencing for familial nonsyndromic hearing loss.
Choi BY, Park G, Gim J, Kim AR, et al.
PLOS One. 2013 Aug 22;8(8):e68692.

Genic intolerance to functional variation and the interpretation of personal genomes.
Petrovski S, Wang Q, Heinzen EL, Allen AS, Goldstein DB.
PLOS Genet. 2013 Aug;9(8):e1003709.

The PSEN1, p.E318G variant increases the risk of Alzheimer's disease in APOE-ε4 carriers.
Benitez BA, Karch CM, Cai Y, Jin SC, et al.
PLOS Genet. 2013 Aug;9(8):e1003685.

Detection of cytomegalovirus drug resistance mutations by next-generation sequencing.
Sahoo MK, Lefterova MI, Yamamoto F, Waggoner JJ, et al.
J Clin Microbiol. 2013 Aug 28. [Epub ahead of print]

Dynamics of defective hepatitis C virus clones in reinfected liver grafts in liver transplant recipients; ultra-deep sequencing analysis.
Ohtsuru S, Ueda Y, Marusawa H, Inuzuka T, et al.
J Clin Microbiol. 2013 Aug 28. [Epub ahead of print]

Dietary intervention impact on gut microbial gene richness.
Cotillard A, Kennedy SP, Kong LC, Prifti E, et al.
Nature. 2013 Aug 29;500(7464):585-8.

ABCA4 gene screening by next-generation sequencing in a British cohort.
Fujinami K, Zernant J, Chana RK, Wright GA, et al.
Invest Ophthalmol Vis Sci. 2013 Aug 27. [Epub ahead of print]

A novel locus for episodic ataxia:UBR4 the likely candidate.
Conroy J, McGettigan P, Murphy R, Webb D, et al.
Eur J Hum Genet. 2013 Aug 28. [Epub ahead of print]

The missing "link": an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation.
Schreml J, Durmaz B, Cogulu O, Keupp K, et al.
Hum Genet. 2013 Aug 27. [Epub ahead of print]

Two co-existing germline mutations P53 V157D and PMS2 R20Q promote tumorigenesis in a familial cancer syndrome.
Wang Z, Sun Y, Gao B, Lu Y, et al.
Cancer Lett. 2013 Aug 24. [Epub ahead of print]

Targeted next-generation sequencing panel (ThyroSeq) for detection of mutations in thyroid cancer.
Nikiforova MN, Wald AI, Roy S, Durso MB, Nikiforov YE.
J Clin Endocrinol Metab. 2013 Aug 26. [Epub ahead of print]

Molecular screening for a personalized treatment approach in advanced adrenocortical cancer.
De Martino MC, Al Ghuzlan A, Aubert S, Assié G, et al.
J Clin Endocrinol Metab. 2013 Aug 26. [Epub ahead of print]

Automated analysis of immunoglobulin genes from high-throughput sequencing: life without a template.
Michaeli M, Barak M, Hazanov L, Noga H, Mehr R.
J Clin Bioinforma. 2013 Aug 27;3(1):15.

The Scan

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A new study in PNAS has found that white-tailed deer could act as a reservoir of SARS-CoV-2 variants no longer found among humans.

Study Points to Benefits of Local Consolidative Therapy, Targeted Treatments in Cancer Care

In JCO Precision Oncology, researchers report that local consolidative therapy combined with molecularly targeted treatments could improve survival for some lung cancer patients.

Genetic Variants That Lower LDL Cholesterol Linked to Reduced Heart Disease Risk

Rare variants in two genes that lower LDL cholesterol are also associated with a decreased risk of coronary heart disease, according to a new JAMA Cardiology study.

Study Links Evolution of Longevity, Social Organization in Mammals

With the help of comparative phylogenetics and transcriptomics, researchers in Nature Communications see ties between lifespan and social organization in mammals.