Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

Protein coding genes constitute only approximately 1% of the human genome but harbor 85% of the mutations with large effects on disease-related traits. Therefore, efficient strategies for selectively sequencing complete coding regions (i.e., "whole exome") have the potential to contribute...

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Veröffentlicht in:	Proceedings of the National Academy of Sciences - PNAS 2009-11, Vol.106 (45), p.19096-19101
Hauptverfasser:	Choi, Murim, Scholl, Ute I, Ji, Weizhen, Liu, Tiewen, Tikhonova, Irina R, Zumbo, Paul, Nayir, Ahmet, Bakkaloğlu, Aysin, Özen, Seza, Sanjad, Sami, Nelson-Williams, Carol, Farhi, Anita, Mane, Shrikant, Lifton, Richard P
Format:	Artikel
Sprache:	eng
Schlagworte:	Algorithms Antiporters - genetics Bartter syndrome Base Sequence Biological Sciences Chloride-Bicarbonate Antiporters Chlorides Computational Biology Deoxyribonucleic acid Diarrhea Diarrhea - genetics DNA Exome Gastrointestinal tract Genes Genetic Diseases, Inborn - genetics Genetic loci Genetic mutation Genomes Genomics Genomics - methods Humans Medical diagnosis Medical genetics Molecular Diagnostic Techniques - methods Molecular Sequence Data Mutation Mutation, Missense - genetics Open Reading Frames - genetics Proteins Sequence Analysis, DNA - methods Sequencing
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