Ontology highlight
ABSTRACT:
SUBMITTER: Maranhao B
PROVIDER: S-EPMC4146529 | biostudies-literature | 2014 Feb-Mar
REPOSITORIES: biostudies-literature
Maranhao B B Biswas P P Duncan J L JL Branham K E KE Silva G A GA Naeem M A MA Khan S N SN Riazuddin S S Hejtmancik J F JF Heckenlively J R JR Riazuddin S A SA Lee P L PL Ayyagari R R
Genomics 20140201 2-3
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 conditions. To this end, we have developed user-friendly software that analyzes varia ...[more]