{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T11:42:21Z","timestamp":1787312541439,"version":"build-2736575974"},"reference-count":49,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2019,10,7]],"date-time":"2019-10-07T00:00:00Z","timestamp":1570406400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2019,10,7]],"date-time":"2019-10-07T00:00:00Z","timestamp":1570406400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/100000062","name":"U.S. Department of Health & Human Services | NIH | National Institute of Diabetes and Digestive and Kidney Diseases","doi-asserted-by":"publisher","award":["T32DK060445"],"award-info":[{"award-number":["T32DK060445"]}],"id":[{"id":"10.13039\/100000062","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Sci Rep"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Next-generation DNA sequencing is currently limited by an inability to accurately count the number of input DNA molecules. Molecular counting is particularly needed when accurate quantification is required for diagnostic purposes, such as in single\u00a0gene non-invasive prenatal testing (sgNIPT) and liquid biopsy. We developed Quantitative Counting Template (QCT) molecular counting to reconstruct the number of input DNA molecules using sequencing data. We then used QCT molecular counting to develop sgNIPTs of sickle cell disease, cystic fibrosis, spinal muscular atrophy, alpha-thalassemia, and beta-thalassemia. The analytical sensitivity and specificity of sgNIPT was &gt;98% and &gt;99%, respectively. Validation of sgNIPTs was further performed with maternal blood samples collected during pregnancy, and sgNIPTs were 100% concordant with newborn follow-up.<\/jats:p>","DOI":"10.1038\/s41598-019-50378-8","type":"journal-article","created":{"date-parts":[[2019,10,7]],"date-time":"2019-10-07T06:04:19Z","timestamp":1570428259000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":49,"title":["A novel high-throughput molecular counting method with single base-pair resolution enables accurate single-gene NIPT"],"prefix":"10.1038","volume":"9","author":[{"given":"David S.","family":"Tsao","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sukrit","family":"Silas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brian P.","family":"Landry","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nelda P.","family":"Itzep","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy B.","family":"Nguyen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samuel","family":"Greenberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Celeste K.","family":"Kanne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vivien A.","family":"Sheehan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rani","family":"Sharma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rahul","family":"Shukla","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Prem N.","family":"Arora","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oguzhan","family":"Atay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2019,10,7]]},"reference":[{"key":"50378_CR1","doi-asserted-by":"publisher","first-page":"333","DOI":"10.1038\/nrg.2016.49","volume":"17","author":"S Goodwin","year":"2016","unstructured":"Goodwin, S., McPherson, J. D. & McCombie, W. R. Coming of age: ten years of next-generation sequencing technologies. Nat. Rev. Genet. 17, 333\u2013351 (2016).","journal-title":"Nat. Rev. Genet."},{"key":"50378_CR2","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1002\/0471142727.mb2129s109","volume":"109","author":"JD Buenrostro","year":"2015","unstructured":"Buenrostro, J. D., Wu, B., Chang, H. Y. & Greenleaf, W. J. ATAC-seq: a method for assaying chromatin accessibility genome-wide. Curr. Protoc. Mol. Biol. 109, 21\u201329 (2015).","journal-title":"Curr. Protoc. Mol. Biol."},{"key":"50378_CR3","doi-asserted-by":"publisher","first-page":"615","DOI":"10.1038\/s41576-018-0034-x","volume":"19","author":"EJ Strobel","year":"2018","unstructured":"Strobel, E. J., Angela, M. Y. & Lucks, J. B. High-throughput determination of RNA structures. Nat. Rev. Genet. 19, 615\u2013634 (2018).","journal-title":"Nat. Rev. Genet."},{"key":"50378_CR4","doi-asserted-by":"publisher","first-page":"e173438","DOI":"10.1001\/jamapediatrics.2017.3438","volume":"171","author":"L Meng","year":"2017","unstructured":"Meng, L. et al. Use of exome sequencing for infants in intensive care units: ascertainment of severe single-gene disorders and effect on medical management. JAMA Pediatr. 171, e173438 (2017).","journal-title":"JAMA Pediatr."},{"key":"50378_CR5","doi-asserted-by":"crossref","first-page":"762","DOI":"10.1634\/theoncologist.2017-0152","volume":"22","author":"GM Blumenthal","year":"2017","unstructured":"Blumenthal, G. M. et al. Oncology drug approvals: evaluating endpoints and evidence in an era of breakthrough therapies. The Oncol. 22, 762\u2013767 (2017).","journal-title":"The Oncol."},{"key":"50378_CR6","doi-asserted-by":"publisher","first-page":"127","DOI":"10.1038\/nrclinonc.2018.11","volume":"15","author":"GM Blumenthal","year":"2018","unstructured":"Blumenthal, G. M. & Pazdur, R. Approvals in 2017: gene therapies and site-agnostic indications. Nat. Rev. Clin. Oncol. 15, 127\u2013128 (2018).","journal-title":"Nat. Rev. Clin. Oncol."},{"key":"50378_CR7","doi-asserted-by":"publisher","first-page":"579","DOI":"10.1200\/JCO.2012.45.2011","volume":"32","author":"LA Diaz Jr.","year":"2014","unstructured":"Diaz, L. A. Jr. & Bardelli, A. Liquid biopsies: genotyping circulating tumor DNA. J. Clin. Oncol. 32, 579\u2013586 (2014).","journal-title":"J. Clin. Oncol."},{"key":"50378_CR8","doi-asserted-by":"publisher","first-page":"531","DOI":"10.1038\/nrclinonc.2017.14","volume":"14","author":"G Siravegna","year":"2017","unstructured":"Siravegna, G., Marsoni, S., Siena, S. & Bardelli, A. Integrating liquid biopsies into the management of cancer. Nat. Rev. Clin. Oncol. 14, 531\u2013548 (2017).","journal-title":"Nat. Rev. Clin. Oncol."},{"key":"50378_CR9","doi-asserted-by":"publisher","first-page":"16266","DOI":"10.1073\/pnas.0808319105","volume":"105","author":"HC Fan","year":"2008","unstructured":"Fan, H. C., Blumenfeld, Y. J., Chitkara, U., Hudgins, L. & Quake, S. R. Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proc. Natl. Acad. Sci. 105, 16266\u201316271 (2008).","journal-title":"Proc. Natl. Acad. Sci."},{"key":"50378_CR10","first-page":"1589","volume":"372","author":"ME Norton","year":"2015","unstructured":"Norton, M. E. et al. Cell-free DNA analysis for noninvasive examination of trisomy. New Engl. J. Medicine 372, 1589\u20131597 (2015).","journal-title":"J. Medicine"},{"key":"50378_CR11","doi-asserted-by":"publisher","first-page":"670","DOI":"10.1186\/s12913-017-2618-0","volume":"17","author":"RV Van Schendel","year":"2017","unstructured":"Van Schendel, R. V., Van El, C. G., Pajkrt, E., Henneman, L. & Cornel, M. C. Implementing non-invasive prenatal testing for aneuploidy in a national healthcare system: global challenges and national solutions. BMC Heal. Serv. Res. 17, 670 (2017).","journal-title":"BMC Heal. Serv. Res."},{"key":"50378_CR12","doi-asserted-by":"publisher","first-page":"3528","DOI":"10.1158\/1078-0432.CCR-17-3837","volume":"24","author":"OA Zill","year":"2018","unstructured":"Zill, O. A. et al. The landscape of actionable genomic alterations in cell-free circulating tumor DNA from 21,807 advanced cancer patients. Clin. Cancer Res. 24, 3528\u20133538 (2018).","journal-title":"Clin. Cancer Res."},{"key":"50378_CR13","doi-asserted-by":"publisher","DOI":"10.1186\/gm62","volume":"1","author":"A Shlien","year":"2009","unstructured":"Shlien, A. & Malkin, D. Copy number variations and cancer. Genome Medicine 1, 62 (2009).","journal-title":"Genome Medicine"},{"key":"50378_CR14","doi-asserted-by":"publisher","first-page":"e219","DOI":"10.1016\/j.cllc.2016.12.006","volume":"18","author":"JM Allen","year":"2017","unstructured":"Allen, J. M. et al. Genomic profiling of circulating tumor DNA in relapsed EGFR-mutated lung adenocarcinoma reveals an acquired FGFR3-TACC3 fusion. Clin. Lung Cancer 18, e219\u2013e222 (2017).","journal-title":"Clin. Lung Cancer"},{"key":"50378_CR15","doi-asserted-by":"publisher","first-page":"e0193802","DOI":"10.1371\/journal.pone.0193802","volume":"13","author":"V Plagnol","year":"2018","unstructured":"Plagnol, V. et al. Analytical validation of a next generation sequencing liquid biopsy assay for high sensitivity broad molecular profiling. PloS One 13, e0193802 (2018).","journal-title":"PloS One"},{"key":"50378_CR16","doi-asserted-by":"publisher","first-page":"e41","DOI":"10.1097\/AOG.0000000000001952","volume":"129","author":"ACOG","year":"2017","unstructured":"ACOG. Carrier screening for genetic conditions. Committee Opinion No. 691. Obstet. Gynecol. 129, e41\u2013e55 (2017).","journal-title":"Obstet. Gynecol."},{"key":"50378_CR17","doi-asserted-by":"publisher","first-page":"840","DOI":"10.1097\/GIM.0b013e318188d069","volume":"10","author":"TW Prior","year":"2008","unstructured":"Prior, T. W. Carrier screening for spinal muscular atrophy. Genet. Medicine 10, 840\u2013842 (2008).","journal-title":"Genet. Medicine"},{"key":"50378_CR18","first-page":"a011692","volume":"2","author":"TN Williams","year":"2012","unstructured":"Williams, T. N. & Weatherall, D. J. World distribution, population genetics, and health burden of the hemoglobinopathies. Cold Spring Harb. Perspectives Medicine 2, a011692 (2012).","journal-title":"Cold Spring Harb. Perspectives Medicine"},{"key":"50378_CR19","first-page":"1155","volume":"63","author":"J Ojodu","year":"2014","unstructured":"Ojodu, J., Hulihan, M. M., Pope, S. N. & Grant, A. M. Incidence of sickle cell trait\u2014United States, 2010. Morb. Mortal. Wkly. Rep. 63, 1155 (2014).","journal-title":"Morb. Mortal. Wkly. Rep."},{"key":"50378_CR20","doi-asserted-by":"publisher","first-page":"166","DOI":"10.1097\/GIM.0b013e3181fa24c4","volume":"13","author":"CM Strom","year":"2011","unstructured":"Strom, C. M. et al. Cystic fibrosis testing 8 years on: lessons learned from carrier screening and sequencing analysis. Genet. Medicine 13, 166\u2013172 (2011).","journal-title":"Genet. Medicine"},{"key":"50378_CR21","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1016\/j.jmoldx.2010.11.012","volume":"13","author":"K Muralidharan","year":"2011","unstructured":"Muralidharan, K. et al. Population carrier screening for spinal muscular atrophy: a position statement of the Association for Molecular Pathology. The J. Mol. Diagn. 13, 3\u20136 (2011).","journal-title":"The J. Mol. Diagn."},{"key":"50378_CR22","doi-asserted-by":"publisher","first-page":"16","DOI":"10.1002\/uog.14636","volume":"45","author":"R Akolekar","year":"2015","unstructured":"Akolekar, R., Beta, J., Picciarelli, G., Ogilvie, C. & D\u2019Antonio, F. Procedure-related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta-analysis. Ultrasound Obstet. & Gynecol. 45, 16\u201326 (2015).","journal-title":"Ultrasound Obstet. & Gynecol."},{"key":"50378_CR23","doi-asserted-by":"publisher","first-page":"687","DOI":"10.1097\/01.AOG.0000278820.54029.e3","volume":"110","author":"F Mujezinovic","year":"2007","unstructured":"Mujezinovic, F. & Alfirevic, Z. Procedure-related complications of amniocentesis and chorionic villous sampling: a systematic review. Obstet. & Gynecol. 110, 687\u2013694 (2007).","journal-title":"Obstet. & Gynecol."},{"key":"50378_CR24","doi-asserted-by":"publisher","first-page":"9530","DOI":"10.1073\/pnas.1105422108","volume":"108","author":"I Kinde","year":"2011","unstructured":"Kinde, I., Wu, J., Papadopoulos, N., Kinzler, K. W. & Vogelstein, B. Detection and quantification of rare mutations with massively parallel sequencing. Proc. Natl. Acad. Sci. 108, 9530\u20139535 (2011).","journal-title":"Proc. Natl. Acad. Sci."},{"key":"50378_CR25","doi-asserted-by":"publisher","first-page":"1347","DOI":"10.1073\/pnas.1118018109","volume":"109","author":"K Shiroguchi","year":"2012","unstructured":"Shiroguchi, K., Jia, T. Z., Sims, P. A. & Xie, X. S. Digital RNA sequencing minimizes sequence-dependent bias and amplification noise with optimized single-molecule barcodes. Proc. Natl. Acad. Sci. 109, 1347\u20131352 (2012).","journal-title":"Proc. Natl. Acad. Sci."},{"key":"50378_CR26","doi-asserted-by":"publisher","first-page":"8604","DOI":"10.1021\/ac202028g","volume":"83","author":"BJ Hindson","year":"2011","unstructured":"Hindson, B. J. et al. High-throughput droplet digital PCR system for absolute quantitation of DNA copy number. Anal. Chem. 83, 8604\u20138610 (2011).","journal-title":"Anal. Chem."},{"key":"50378_CR27","doi-asserted-by":"publisher","first-page":"2132","DOI":"10.1021\/acs.analchem.5b03692","volume":"88","author":"MC Kline","year":"2016","unstructured":"Kline, M. C., Romsos, E. L. & Duewer, D. L. Evaluating digital PCR for the quantification of human genomic DNA: accessible amplifiable targets. Anal. Chem. 88, 2132\u20132139 (2016).","journal-title":"Anal. Chem."},{"key":"50378_CR28","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1016\/j.cell.2015.11.050","volume":"164","author":"MW Snyder","year":"2016","unstructured":"Snyder, M. W., Kircher, M., Hill, A. J., Daza, R. M. & Shendure, J. Cell-free DNA comprises an in vivo nucleosome footprint that informs its tissues-of-origin. Cell 164, 57\u201368 (2016).","journal-title":"Cell"},{"key":"50378_CR29","doi-asserted-by":"crossref","unstructured":"Sinha, R. et al. Index switching causes \u201cspreading-of-signal\u201d among multiplexed samples in Illumina HiSeq 4000 DNA sequencing. BioRxiv 125724 (2017).","DOI":"10.1101\/125724"},{"key":"50378_CR30","doi-asserted-by":"publisher","first-page":"5307","DOI":"10.1038\/s41598-018-23563-4","volume":"8","author":"D Vod\u00e1k","year":"2018","unstructured":"Vod\u00e1k, D. et al. Sample-index misassignment impacts tumour exome sequencing. Sci. Reports 8, 5307 (2018).","journal-title":"Sci. Reports"},{"key":"50378_CR31","doi-asserted-by":"publisher","DOI":"10.1186\/s12864-017-4428-5","volume":"19","author":"LE MacConaill","year":"2018","unstructured":"MacConaill, L. E. et al. Unique, dual-indexed sequencing adapters with UMIs effectively eliminate index cross-talk and significantly improve sensitivity of massively parallel sequencing. BMC Genomics 19, 30 (2018).","journal-title":"BMC Genomics"},{"key":"50378_CR32","doi-asserted-by":"publisher","first-page":"340","DOI":"10.3324\/haematol.13812","volume":"94","author":"CP Minniti","year":"2009","unstructured":"Minniti, C. P. et al. Elevated tricuspid regurgitant jet velocity in children and adolescents with sickle cell disease: association with hemolysis and hemoglobin oxygen desaturation. Haematologica 94, 340\u2013347 (2009).","journal-title":"Haematologica"},{"key":"50378_CR33","doi-asserted-by":"publisher","first-page":"387","DOI":"10.1097\/01.GIM.0000139506.11694.7C","volume":"6","author":"MS Watson","year":"2004","unstructured":"Watson, M. S. et al. Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Genet. Medicine 6, 387\u2013391 (2004).","journal-title":"Genet. Medicine"},{"key":"50378_CR34","doi-asserted-by":"publisher","first-page":"546","DOI":"10.1111\/j.1399-0004.2011.01804.x","volume":"82","author":"R Sebro","year":"2012","unstructured":"Sebro, R. et al. Cystic fibrosis mutations for p.F508del compound heterozygotes predict sweat chloride levels and pancreatic sufficiency. Clin. Genet. 82, 546\u2013551 (2012).","journal-title":"Clin. Genet."},{"key":"50378_CR35","doi-asserted-by":"publisher","first-page":"336","DOI":"10.1373\/clinchem.2017.278101","volume":"64","author":"J Camunas-Soler","year":"2018","unstructured":"Camunas-Soler, J. et al. Noninvasive prenatal diagnosis of single-gene disorders by use of droplet digital PCR. Clin. Chem. 64, 336\u2013345 (2018).","journal-title":"Clin. Chem."},{"key":"50378_CR36","doi-asserted-by":"publisher","first-page":"19920","DOI":"10.1073\/pnas.0810373105","volume":"105","author":"FM Lun","year":"2008","unstructured":"Lun, F. M. et al. Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma. Proc. Natl. Acad. Sci. 105, 19920\u201319925 (2008).","journal-title":"Proc. Natl. Acad. Sci."},{"key":"50378_CR37","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1007\/s12687-012-0114-0","volume":"4","author":"D Mohanty","year":"2013","unstructured":"Mohanty, D. et al. Prevalence of \u03b2-thalassemia and other haemoglobinopathies in six cities in India: a multicentre study. J. Community Genet. 4, 33\u201342 (2013).","journal-title":"J. Community Genet."},{"key":"50378_CR38","doi-asserted-by":"publisher","first-page":"6499","DOI":"10.1007\/s00216-014-7835-3","volume":"406","author":"AS Devonshire","year":"2014","unstructured":"Devonshire, A. S. et al. Towards standardisation of cell-free DNA measurement in plasma: controls for extraction efficiency, fragment size bias and quantification. Anal. Bioanal. Chem. 406, 6499\u20136512 (2014).","journal-title":"Anal. Bioanal. Chem."},{"key":"50378_CR39","doi-asserted-by":"publisher","first-page":"611","DOI":"10.1111\/j.1741-3737.2005.00157.x","volume":"67","author":"R Mincy","year":"2005","unstructured":"Mincy, R., Garfinkel, I. & Nepomnyaschy, L. In-hospital paternity establishment and father involvement in fragile families. J. Marriage Fam. 67, 611\u2013626 (2005).","journal-title":"J. Marriage Fam."},{"key":"50378_CR40","doi-asserted-by":"publisher","first-page":"749","DOI":"10.1136\/jech.2005.036517","volume":"59","author":"MA Bellis","year":"2005","unstructured":"Bellis, M. A., Hughes, K., Hughes, S. & Ashton, J. R. Measuring paternal discrepancy and its public health consequences. J. Epidemiol. & Community Heal. 59, 749\u2013754 (2005).","journal-title":"J. Epidemiol. & Community Heal."},{"key":"50378_CR41","doi-asserted-by":"publisher","first-page":"734","DOI":"10.1001\/jama.2016.11139","volume":"316","author":"IS Haque","year":"2016","unstructured":"Haque, I. S. et al. Modeled fetal risk of genetic diseases identified by expanded carrier screening. Jama 316, 734\u2013742 (2016).","journal-title":"Jama"},{"key":"50378_CR42","doi-asserted-by":"publisher","first-page":"1026","DOI":"10.1373\/clinchem.2011.178939","volume":"58","author":"AN Barrett","year":"2012","unstructured":"Barrett, A. N., McDonnell, T. C., Chan, K. A. & Chitty, L. S. Digital PCR analysis of maternal plasma for noninvasive detection of sickle cell anemia. Clin. Chem. 58, 1026\u20131032 (2012).","journal-title":"Clin. Chem."},{"key":"50378_CR43","doi-asserted-by":"publisher","first-page":"72","DOI":"10.1038\/nmeth.1778","volume":"9","author":"T Kivioja","year":"2012","unstructured":"Kivioja, T. et al. Counting absolute numbers of molecules using unique molecular identifiers. Nat. Methods 9, 72\u201374 (2012).","journal-title":"Nat. Methods"},{"key":"50378_CR44","doi-asserted-by":"publisher","DOI":"10.1186\/s12864-016-2757-4","volume":"17","author":"L Aigrain","year":"2016","unstructured":"Aigrain, L., Gu, Y. & Quail, M. A. Quantitation of next generation sequencing library preparation protocol efficiencies using droplet digital PCR assays-a systematic comparison of DNA library preparation kits for Illumina sequencing. BMC Genomics 17, 458 (2016).","journal-title":"BMC Genomics"},{"key":"50378_CR45","doi-asserted-by":"publisher","first-page":"e0146638","DOI":"10.1371\/journal.pone.0146638","volume":"11","author":"R Kou","year":"2016","unstructured":"Kou, R. et al. Benefits and challenges with applying unique molecular identifiers in next generation sequencing to detect low frequency mutations. PloS One 11, e0146638 (2016).","journal-title":"PloS One"},{"key":"50378_CR46","doi-asserted-by":"publisher","first-page":"172","DOI":"10.1038\/nrg3871","volume":"16","author":"M Zarrei","year":"2015","unstructured":"Zarrei, M., MacDonald, J. R., Merico, D. & Scherer, S. W. A copy number variation map of the human genome. Nat. Rev. Genet. 16, 172\u2013183 (2015).","journal-title":"Nat. Rev. Genet."},{"key":"50378_CR47","doi-asserted-by":"publisher","first-page":"899","DOI":"10.1038\/nature08822","volume":"463","author":"R Beroukhim","year":"2010","unstructured":"Beroukhim, R. et al. The landscape of somatic copy-number alteration across human cancers. Nature 463, 899\u2013905 (2010).","journal-title":"Nature"},{"key":"50378_CR48","unstructured":"Li, H. Aligning sequence reads, clone sequences and assembly contigs with BWA-MEM. arXiv 1303.3997 (2013)."},{"key":"50378_CR49","doi-asserted-by":"crossref","first-page":"11.10.1","DOI":"10.1002\/0471250953.bi1110s43","volume":"43","author":"GA Van der Auwera","year":"2013","unstructured":"Van der Auwera, G. A. et al. From FastQ data to high-confidence variant calls: the genome analysis toolkit best practices pipeline. Curr. Protoc. Bioinforma. 43, 11.10.1\u201311.10.33 (2013).","journal-title":"Curr. Protoc. Bioinforma."}],"container-title":["Scientific Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41598-019-50378-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41598-019-50378-8","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41598-019-50378-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,21]],"date-time":"2023-09-21T06:24:05Z","timestamp":1695277445000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41598-019-50378-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,10,7]]},"references-count":49,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2019,12]]}},"alternative-id":["50378"],"URL":"https:\/\/doi.org\/10.1038\/s41598-019-50378-8","relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/597732","asserted-by":"object"}]},"ISSN":["2045-2322"],"issn-type":[{"value":"2045-2322","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,10,7]]},"assertion":[{"value":"8 May 2019","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"11 September 2019","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"7 October 2019","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"D.S.T., S.S., B.P.L., A.B.N., S.G., R. Sharma, and O.A. are or were employees of BillionToOne (or a subsidiary) and\/or hold stock or options to hold stock in the company. Patent disclosures about this work have been filed with BillionToOne, Inc. BillionToOne, Inc. funded portions of this study. N.I., C.K.K., V.A.S., R. Shukla, and P.N.A. declare no competing interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing Interests"}}],"article-number":"14382"}}