Article
exomeSuite: Whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels.
Genomics - 1 Jan 2000
Maranhao B, Biswas P, Duncan J L, Branham K E, Silva G A, Naeem M A, Khan S N, Riazuddin S, Hejtmancik J F, Heckenlively J R, Riazuddin S A, Lee P L, Ayyagari R
Abstract excerpt
Exome and whole-genome analyses powered by next-generation sequencing (NGS) have become invaluable tools in identifying causal mutations responsible for Mendelian disorders. Given that individual exomes contain several thousand single nucleotide variants and insertions/deletions, it remains a challenge to analyze large numbers of variants from multiple exomes to identify causal alleles associated with inherited...
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