Regulatory variations in the era of next-generation sequencing: implications for clinical molecular diagnostics. - Wikidata - awgldk - TriplyDB

Regulatory variations in the era of next-generation sequencing: implications for clinical molecular diagnostics.

Regulatory variations in the era of next-generation sequencing: implications for clinical molecular diagnostics.

http://www.wikidata.org/entity/Q37995121

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Ultra-rare mutation in long-range enhancer predisposes to thyroid carcinoma with high penetrance Evaluating tools for transcription factor binding site prediction.A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease.Application of high-throughput sequencing for studying genomic variations in congenital heart disease.Next-generation sequencing in childhood disorders.Axons to Exons: the Molecular Diagnosis of Rare Neurological Diseases by Next-Generation Sequencing.Distinct patterns of genetic variations in potential functional elements in long noncoding RNAs.

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Regulatory variations in the era of next-generation sequencing: implications for clinical molecular diagnostics.

http://www.wikidata.org/entity/Q37995121

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Regulatory variations in the e ...... linical molecular diagnostics.

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Regulatory variations in the e ...... linical molecular diagnostics.

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Regulatory variations in the e ...... linical molecular diagnostics.

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Regulatory variations in the e ...... linical molecular diagnostics.

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Regulatory variations in the e ...... linical molecular diagnostics.

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Regulatory variations in the e ...... linical molecular diagnostics.

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Regulatory variations in the e ...... linical molecular diagnostics.

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Marc Ekker

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Olga Jarinova

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Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

The genetic signatures of noncoding RNAs

Transcriptional Regulatory Elements in the Human Genome

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

Frequent deletions and down-regulation of micro- RNA genes miR15 and miR16 at 13q14 in chronic lymphocytic leukemia

Implication of snoRNA U50 in human breast cancer

Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease

Exome sequencing identifies the cause of a mendelian disorder

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly

Molecular interplay of the noncoding RNA ANRIL and methylated histone H3 lysine 27 by polycomb CBX7 in transcriptional silencing of INK4a

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1021-1030

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scholarly article

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10.1002/HUMU.22083

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7

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33

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2012-04-16T00:00:00Z

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22431194

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