Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

[1]  K.,et al.  Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: Oral Presentations , 2020, European Journal of Human Genetics.

[2]  Jesper Eisfeldt,et al.  Loqusdb: added value of an observations database of local genomic variation , 2020, BMC Bioinformatics.

[3]  Keith W. Muir,et al.  Whole-genome sequencing of patients with rare diseases in a national health system , 2020, Nature.

[4]  Robin Andeer,et al.  Chanjo: Clincal grade sequence coverage analysis , 2020, F1000Research.

[5]  Helga Thorvaldsdóttir,et al.  igv.js: an embeddable JavaScript implementation of the Integrative Genomics Viewer (IGV) , 2020, bioRxiv.

[6]  J. Rosenfeld,et al.  Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD , 2020, Journal of Medical Genetics.

[7]  D. Gisselsson,et al.  Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome , 2020, The Journal of experimental medicine.

[8]  Ryan L. Collins,et al.  The mutational constraint spectrum quantified from variation in 141,456 humans , 2020, Nature.

[9]  P. Georgii‐Hemming,et al.  From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability , 2019, Genome Medicine.

[10]  Katherine R. Smith,et al.  PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels , 2019, Nature Genetics.

[11]  A. Nordgren,et al.  Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186 , 2019, Front. Genet..

[12]  Konrad Scheffler,et al.  ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions , 2019, Bioinformatics.

[13]  Jana Vandrovcova,et al.  Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia , 2019, Nature Genetics.

[14]  J. Kere,et al.  Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions , 2019, Nature Communications.

[15]  Konrad Scheffler,et al.  ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions , 2019, bioRxiv.

[16]  Chunlin Xiao,et al.  An open resource for accurately benchmarking small variant and reference calls , 2019, Nature Biotechnology.

[17]  Elias S. J. Arnér,et al.  Absence of TXNIP in Humans Leads to Lactic Acidosis and Low Serum Methionine Linked to Deficient Respiration on Pyruvate , 2019, Diabetes.

[18]  Hiroshi I. Suzuki,et al.  Gain-of-function mutation of microRNA-140 in human skeletal dysplasia , 2019, Nature Medicine.

[19]  Klaus Lehnert,et al.  De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. , 2018, American journal of human genetics.

[20]  A. Nordgren,et al.  Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability , 2018, Clinical genetics.

[21]  Pall I. Olason,et al.  TIDDIT, an efficient and comprehensive structural variant caller for massive parallel sequencing data , 2017, F1000Research.

[22]  Jesper Eisfeldt,et al.  TIDDIT, an efficient and comprehensive structural variant caller , 2017 .

[23]  D. Taruscio,et al.  Rare Diseases Epidemiology: Update and Overview , 2017, Advances in Experimental Medicine and Biology.

[24]  R. Pfundt,et al.  Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism , 2016, Human Genetics.

[25]  Brent S. Pedersen,et al.  Who’s Who? Detecting and Resolving Sample Anomalies in Human DNA Sequencing Studies with Peddy , 2016, bioRxiv.

[26]  Levi C. T. Pierce,et al.  Deep sequencing of 10,000 human genomes , 2016, Proceedings of the National Academy of Sciences.

[27]  Xiaoyu Chen,et al.  Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications , 2016, Bioinform..

[28]  F. Cunningham,et al.  The Ensembl Variant Effect Predictor , 2016, bioRxiv.

[29]  Brent S. Pedersen,et al.  Vcfanno: fast, flexible annotation of genetic variants , 2016, bioRxiv.

[30]  Y. Okazaki,et al.  Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26 , 2015, American journal of human genetics.

[31]  Tom R. Gaunt,et al.  The UK10K project identifies rare variants in health and disease , 2016 .

[32]  I. Scheffer,et al.  Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures , 2015, Nature Communications.

[33]  Kengo Kinoshita,et al.  Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals , 2015, Nature Communications.

[34]  A. Mourier,et al.  Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4–dihydroxybensoic acid , 2015, Journal of Medical Genetics.

[35]  Bjarni V. Halldórsson,et al.  Large-scale whole-genome sequencing of the Icelandic population , 2015, Nature Genetics.

[36]  Anna Lindstrand,et al.  Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features. , 2015, American journal of human genetics.

[37]  E. Zeggini,et al.  The African Genome Variation Project shapes medical genetics in Africa , 2014, Nature.

[38]  Carson C Chow,et al.  Second-generation PLINK: rising to the challenge of larger and richer datasets , 2014, GigaScience.

[39]  Pontus Larsson,et al.  Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism , 2014, BMC Genomics.

[40]  A. Hoischen,et al.  Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway. , 2014, American journal of human genetics.

[41]  Pieter B. T. Neerincx,et al.  Supplementary Information Whole-genome sequence variation , population structure and demographic history of the Dutch population , 2022 .

[42]  O. Mäkitie,et al.  Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease , 2014, Molecular genetics & genomic medicine.

[43]  O. Mäkitie,et al.  A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT , 2013, Journal of Medical Genetics.

[44]  Bjarne Udd,et al.  Welander distal myopathy is caused by a mutation in the RNA‐binding protein TIA1 , 2013, Annals of neurology.

[45]  Adam Ameur,et al.  Welander Distal Myopathy Caused by an Ancient Founder Mutation in TIA1 Associated with Perturbed Splicing , 2013, Human mutation.

[46]  Vicki L. Wong,et al.  Priority Medicines for Europe and the World "A Public Health Approach to Innovation" , 2013 .

[47]  L. de Meirleir Disorders of pyruvate metabolism. , 2013, Handbook of clinical neurology.

[48]  Claudio Ciborra,et al.  Panels , 2018, 2011 Fifth IEEE International Conference on Advanced Telecommunication Systems and Networks (ANTS).

[49]  J. Lundeberg,et al.  Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function. , 2011, American journal of human genetics.

[50]  M. Gerstein,et al.  CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing. , 2011, Genome research.

[51]  Helga Thorvaldsdóttir,et al.  Integrative Genomics Viewer , 2011, Nature Biotechnology.

[52]  M. DePristo,et al.  The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. , 2010, Genome research.

[53]  Richard Durbin,et al.  Sequence analysis Fast and accurate short read alignment with Burrows – Wheeler transform , 2009 .

[54]  J. Wester A rare disease , 2007, Critical care.