2018
A noncoding variant in GANAB explains isolated polycystic liver disease (PCLD) in a large family
Besse W, Choi J, Ahram D, Mane S, Sanna‐Cherchi S, Torres V, Somlo S. A noncoding variant in GANAB explains isolated polycystic liver disease (PCLD) in a large family. Human Mutation 2018, 39: 378-382. PMID: 29243290, PMCID: PMC5805583, DOI: 10.1002/humu.23383.Peer-Reviewed Original ResearchConceptsLoss-of-function variantsSequence analysis pipelineWhole-exome sequencing analysisExome sequencing dataExome sequencing analysisBase pair deletionSkipping of exonIsolated polycystic liver diseaseNoncoding variantsLinkage analysisDisease genesSequence dataGene discoveryMinigene assayLinkage disequilibriumCoding regionSNP genotypingSequence analysisGenomic evaluationPolycystic liver diseaseSplice donorIdentified mutationsMutation detectionPair deletionGANAB
2017
Whole exome sequencing: a state-of-the-art approach for defining (and exploring!) genetic landscapes in pediatric nephrology
Gulati A, Somlo S. Whole exome sequencing: a state-of-the-art approach for defining (and exploring!) genetic landscapes in pediatric nephrology. Pediatric Nephrology 2017, 33: 745-761. PMID: 28660367, DOI: 10.1007/s00467-017-3698-0.Peer-Reviewed Original ResearchConceptsWhole-exome sequencingNew high-throughput sequencing techniquesHigh-throughput sequencing techniquesConventional genomic approachesNovel gene discoveryNext-generation sequencing technologiesNovel genetic findingsHuman reference genomeExome sequencingGenomic approachesGene discoveryReference genomeHuman genomeSequencing technologiesSequencing techniquesGenetic landscapeLinkage analysisGenomeBiological dataGenetic findingsSequencingPhenotypic misclassificationRecent studiesComprehensive genomic testingPowerful tool