Two years ago, NIH's Undiagnosed Diseases Program began delivering genomics to the clinic on an unprecedented scale. Now, with 128 exomes sequenced and 39 rare diseases diagnosed, the program's success is paving the way for widespread personal genomics while pioneering new techniques for reigning in the “tsunami” of genomics data
Item does not contain fulltextAIMS: The causes of intellectual disability, which affects 1%-3% of th...
DNA sequencing has revolutionized biological and medical research, and is poised to have a similar i...
BACKGROUND: Whole-exome sequencing has transformed gene discovery and diagnosis in rare diseases. Tr...
Beginning in 2009, the advent of exome sequencing has contributed significantly towards new discove...
Genomic tools have evolved with remarkable rapidity, but their clinical relevance and application ha...
Identification of disease causing mutations in genetically heterogeneous conditions such as intellec...
Une pathologie est dite rare lorsqu'elle affecte moins d'une personne sur 2.000. On dénombre plus de...
The translation of "next-generation" sequencing directly to the clinic is still being assessed but h...
Objective: The growing availability of next-generation sequencing technologies has revolutionized me...
The discovery of DNA fundamentally changed the world, revolutionizing our understanding of life and ...
Recent advances in next-generation sequencing technologies have brought a paradigm shift in how medi...
Reanalysis of inconclusive exome/genome sequencing data increases the diagnosis yield of patients wi...
BACKGROUND: Given the rarity of most single-gene Mendelian disorders, concerted efforts of data e...
A paradigm shift toward biology occurred in the 1990s and was subsequently catalyzed by the sequenci...
Abstract The journey related to genomic information access and utilization by researchers and clini...
Item does not contain fulltextAIMS: The causes of intellectual disability, which affects 1%-3% of th...
DNA sequencing has revolutionized biological and medical research, and is poised to have a similar i...
BACKGROUND: Whole-exome sequencing has transformed gene discovery and diagnosis in rare diseases. Tr...
Beginning in 2009, the advent of exome sequencing has contributed significantly towards new discove...
Genomic tools have evolved with remarkable rapidity, but their clinical relevance and application ha...
Identification of disease causing mutations in genetically heterogeneous conditions such as intellec...
Une pathologie est dite rare lorsqu'elle affecte moins d'une personne sur 2.000. On dénombre plus de...
The translation of "next-generation" sequencing directly to the clinic is still being assessed but h...
Objective: The growing availability of next-generation sequencing technologies has revolutionized me...
The discovery of DNA fundamentally changed the world, revolutionizing our understanding of life and ...
Recent advances in next-generation sequencing technologies have brought a paradigm shift in how medi...
Reanalysis of inconclusive exome/genome sequencing data increases the diagnosis yield of patients wi...
BACKGROUND: Given the rarity of most single-gene Mendelian disorders, concerted efforts of data e...
A paradigm shift toward biology occurred in the 1990s and was subsequently catalyzed by the sequenci...
Abstract The journey related to genomic information access and utilization by researchers and clini...
Item does not contain fulltextAIMS: The causes of intellectual disability, which affects 1%-3% of th...
DNA sequencing has revolutionized biological and medical research, and is poised to have a similar i...
BACKGROUND: Whole-exome sequencing has transformed gene discovery and diagnosis in rare diseases. Tr...
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