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Tag Archives: exome sequencing
Collaboration column: A new gene-hunting strategy locates genetic cause of a rare disease
With an ingenious combination of next-generation sequencing, conventional gene mapping and bioinformatics detective work, an Israeli-led collaboration that includes CSHL scientists has helped a Palestinian family to confront the genetic culprit behind a rare, hereditary neurological disease that afflicts some … Continue reading
Posted in Bioinformatics, Disease research, Genomics
Tagged exome sequencing, genetic variation, Hannon
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