Exome sequencing papers from PubMed
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Selected Papers in PubMed
- Article: Targeted capture and massively parallel sequencing of 12 human exomes.
- PubMed Central access to full text of above article.
- Harvard Proxy link to full text at Nature
_________________________________________________ - Article: Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disorders.
- PubMed Central access to full text of above article
- Open access link to full text at Bioinformatics
_________________________________________________ - Article: Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.
- PubMed Central access to full text of above aticle.
- Harvard Proxy link to full text at Nature Genetics.
_________________________________________________ - Article: Exome sequencing identifies the cause of a mendelian disorder.
- PubMed Central access to full text of above article.
- Harvard Proxy link to full text at Nature Genetics.
_________________________________________________ - Article: Charting a course for genomic medicine from base pairs to bedside.
- Harvard Proxy link to full text at Nature.
_________________________________________________ - Article: Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.
- PubMed Central access to full text of above article.
- Harvard Proxy link to full text at Nature Genetics.
_________________________________________________ - Article: Next generation sequencing in research and diagnostics of ocular birth defects.
- PubMed Central access to full text of above article.
- Harvard Proxy link to full text at Molecular Genetics and Metabolism.
_________________________________________________ - Article: Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.
- Open Access paper at New England Journal of Medicine.
_________________________________________________ - Article: Do-it-yourself genetic testing.
- Open Access paper at Genome Biology.
_________________________________________________ - Article: Novel genomic techniques open new avenues in the analysis of monogenic disorders.
- Harvard Proxy link to full text at Human Mutation.
_________________________________________________ - Article: Clinical assessment incorporating a personal genome.
- PubMed Central access to full text of above article.
- Harvard Proxy link to full text at Lancet.
_________________________________________________ - Article: Whole-Genome Sequencing for Optimized Patient Management
- Harvard Proxy Link to full text at Science Translational Medicine
_________________________________________________ - Article: Deep Sequencing of Patient Genomes for Disease Diagnosis: When Will It Become Routine?
- Harvard Proxy link to full text at Science Translational Medicine_________________________________________________
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