Goodwin S. McPherson J.D. McCombie W.R.

Coming of age: ten years of next-generation sequencing technologies.

Nat Rev Genet. 2016; 17: 333-351View in Article Scopus (1914) PubMed Crossref Google ScholarDehainault C. Golmard L. Millot G.A. Charpin A. Lauge A. Tarabeux J. Aerts I. Cassoux N. Stoppa-Lyonnet D. Gauthier-Villars M. Houdayer C.

Mosaicism and prenatal diagnosis options: insights from retinoblastoma.

Eur J Hum Genet. 2017; 25: 381-383View in Article Scopus (10) PubMed Crossref Google ScholarCoonrod E.M. Durtschi J.D. VanSant Webb C. Voelkerding K.V. Kumanovics A.

Next-generation sequencing of custom amplicons to improve coverage of HaloPlex multigene panels.

Biotechniques. 2014; 57: 204-207View in Article Scopus (10) PubMed Crossref Google ScholarAdey A. Morrison H.G. Asan Xun X. Kitzman J.O. Turner E.H. Stackhouse B. MacKenzie A.P. Caruccio N.C. Zhang X. Shendure J.

Rapid, low-input, low-bias construction of shotgun fragment libraries by high-density in vitro transposition.

Genome Biol. 2010; 11: R119View in Article Scopus (341) PubMed Crossref Google ScholarEwels P. Magnusson M. Lundin S. Kaller M.

MultiQC: summarize analysis results for multiple tools and samples in a single report.

Bioinformatics. 2016; 32: 3047-3048View in Article Scopus (1501) PubMed Crossref Google ScholarMartin M.

Cutadapt removes adapter sequences from high-throughput sequencing reads.

EMBnet.journal [S.l.]. 2011; 17: 10-12View in Article Crossref Google ScholarBolger A.M. Lohse M. Usadel B.

Trimmomatic: a flexible trimmer for Illumina sequence data.

Bioinformatics. 2014; 30: 2114-2120View in Article Scopus (23336) PubMed Crossref Google ScholarGarrison E. Marth G.

Haplotype-based variant detection from short-read sequencing.

arXiv. 2012; ([Preprint] doi:)10.48550/arXiv.1207.3907View in Article Google ScholarCingolani P. Platts A. Wang le L. Coon M. Nguyen T. Wang L. Land S.J. Lu X. Ruden D.M.

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3.

Fly (Austin). 2012; 6: 80-92View in Article Scopus (4850) PubMed Crossref Google ScholarCingolani P. Patel V.M. Coon M. Nguyen T. Land S.J. Ruden D.M. Lu X.

Using Drosophila melanogaster as a model for genotoxic chemical mutational studies with a new program, SnpSift.

Front Genet. 2012; 3: 35View in Article Scopus (442) PubMed Crossref Google ScholarTan Y.C. Michaeel A. Blumenfeld J. Donahue S. Parker T. Levine D. Rennert H.

A novel long-range PCR sequencing method for genetic analysis of the entire PKD1 gene.

J Mol Diagn. 2012; 14: 305-313View in Article Scopus (35) PubMed Abstract Full Text Full Text PDF Google ScholarKnierim E. Lucke B. Schwarz J.M. Schuelke M. Seelow D.

Systematic comparison of three methods for fragmentation of long-range PCR products for next generation sequencing.

PLoS One. 2011; 6: e28240View in Article Scopus (84) PubMed Crossref Google Scholarde Sousa Dias M. Hernan I. Pascual B. Borras E. Mane B. Gamundi M.J. Carballo M.

Detection of novel mutations that cause autosomal dominant retinitis pigmentosa in candidate genes by long-range PCR amplification and next-generation sequencing.

Mol Vis. 2013; 19: 654-664View in Article PubMed Google ScholarPezeshkpoor B. Zimmer N. Marquardt N. Nanda I. Haaf T. Budde U. Oldenburg J. El-Maarri O.

Deep intronic ‘mutations’ cause hemophilia A: application of next generation sequencing in patients without detectable mutation in F8 cDNA.

J Thromb Haemost. 2013; 11: 1679-1687View in Article Scopus (60) PubMed Crossref Google ScholarSong X. Haghighi A. Iliuta I.A. Pei Y.

Molecular diagnosis of autosomal dominant polycystic kidney disease.

Expert Rev Mol Diagn. 2017; 17: 885-895View in Article Scopus (10) PubMed Crossref Google ScholarRossetti S. Hopp K. Sikkink R.A. Sundsbak J.L. Lee Y.K. Kubly V. Eckloff B.W. Ward C.J. Winearls C.G. Torres V.E. Harris P.C.

Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing.

J Am Soc Nephrol. 2012; 23: 915-933View in Article Scopus (111) PubMed Crossref Google ScholarObeidova L. Seeman T. Fencl F. Blahova K. Hojny J. Elisakova V. Reiterova J. Stekrova J.

Results of targeted next-generation sequencing in children with cystic kidney diseases often change the clinical diagnosis.

PLoS One. 2020; 15: e0235071View in Article Scopus (6) PubMed Crossref Google ScholarAbascal F. Tress M.L. Valencia A.

Alternative splicing and co-option of transposable elements: the case of TMPO/LAP2alpha and ZNF451 in mammals.

Bioinformatics. 2015; 31: 2257-2261View in Article Scopus (27) PubMed Crossref Google ScholarKrull M. Brosius J. Schmitz J.

Alu-SINE exonization: en route to protein-coding function.

Mol Biol Evol. 2005; 22: 1702-1711View in Article Scopus (111) PubMed Crossref Google ScholarKluge C. Brecevic L. Heizmann C.W. Blau N. Thony B.

Chromosomal localization, genomic structure and characterization of the human gene and a retropseudogene for 6-pyruvoyltetrahydropterin synthase.

Eur J Biochem. 1996; 240: 477-484View in Article Scopus (27) PubMed Crossref Google ScholarUle J.

Alu elements: at the crossroads between disease and evolution.

Biochem Soc Trans. 2013; 41: 1532-1535View in Article Scopus (27) PubMed Crossref Google ScholarLionel A.C. Costain G. Monfared N. Walker S. Reuter M.S. Hosseini S.M. et al.

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.

Genet Med. 2018; 20: 435-443View in Article Scopus (231) PubMed Abstract Full Text Full Text PDF Google ScholarQuintana I. Mejias-Luque R. Terradas M. Navarro M. Pinol V. Mur P. Belhadj S. Grau E. Darder E. Solanes A. Brunet J. Capella G. Gerhard M. Valle L.

Evidence suggests that germline RNF43 mutations are a rare cause of serrated polyposis.

Gut. 2018; 67: 2230-2232View in Article Scopus (29) PubMed Crossref Google ScholarRehm H.L. Bale S.J. Bayrak-Toydemir P. Berg J.S. Brown K.K. Deignan J.L. Friez M.J. Funke B.H. Hegde M.R. Lyon E. Working Group of the American College of Medical Genetics, Genomics Laboratory Quality Assurance Committee

ACMG clinical laboratory standards for next-generation sequencing.

Genet Med. 2013; 15: 733-747View in Article Scopus (625) PubMed Abstract Full Text Full Text PDF Google ScholarHindson B.J. Ness K.D. Masquelier D.A. Belgrader P. Heredia N.J. Makarewicz A.J. et al.

High-throughput droplet digital PCR system for absolute quantitation of DNA copy number.

Anal Chem. 2011; 83: 8604-8610View in Article Scopus (1614) PubMed Crossref Google Scholar