Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses.
Npj Genomic Medicine
James, Kiely N KN; Clark, Michelle M MM; Camp, Brandon B; Kint, Cyrielle C; Schols, Peter P; Batalov, Sergey S; Briggs, Benjamin B; Veeraraghavan, Narayanan N; Chowdhury, Shimul S; Kingsmore, Stephen F SF
Publication Date: 2020
Variant appearance in text: GAA: 497C>T; Thr166Ile
Loss of heterozygosity of essential genes represents a widespread class of potential cancer vulnerabilities.
Nature Communications
Nichols, Caitlin A CA; Gibson, William J WJ; Brown, Meredith S MS; Kosmicki, Jack A JA; Busanovich, John P JP; Wei, Hope H; Urbanski, Laura M LM; Curimjee, Naomi N; Berger, Ashton C AC; Gao, Galen F GF; Cherniack, Andrew D AD; Dhe-Paganon, Sirano S; Paolella, Brenton R BR; Beroukhim, Rameen R