fec6bf2d2d279ecdb8049d120d0bf2a5 pmc_33781308.pdf ce811e19e3357e3ae9d7f3fee4d9fe2372d660b6 pmc_33781308.pdf 34b4ae4ee7e39fdd0d44819191b30fc5e6cca66eab3845bad09aeb134071190c pmc_33781308.pdf Title: Comprehensive identification of somatic nucleotide variants in human brain tissue Subject: Genome Biology, 2021, doi:10.1186/s13059-021-02285-3 Keywords: Author: Yifan Wang Creator: Arbortext Advanced Print Publisher 9.1.440/W Unicode Producer: Acrobat Distiller 10.0.0 (Windows); modified using iText® 5.3.5 ©2000-2012 1T3XT BVBA (SPRINGER SBM; licensed version) CreationDate: Thu Mar 25 22:54:37 2021 CET ModDate: Mon Mar 29 11:01:18 2021 CEST Custom Metadata: no Metadata Stream: yes Tagged: no UserProperties: no Suspects: no Form: none JavaScript: no Pages: 32 Encrypted: no Page size: 595.276 x 793.701 pts Page rot: 0 File size: 2125678 bytes Optimized: no PDF version: 1.3 name type encoding emb sub uni object ID ------------------------------------ ----------------- ---------------- --- --- --- --------- MyriadPro-Regular Type 1C Custom yes no yes 17 0 EIJDDA+AdvTTaf7f9f4f.B Type 1C WinAnsi yes yes no 15 0 EIJEGJ+AdvTTe45e47d2 Type 1C WinAnsi yes yes no 16 0 EIJEGK+AdvTTb5929f4c Type 1C WinAnsi yes yes no 44 0 EIJEGL+AdvTTb5929f4c+20 Type 1C WinAnsi yes yes no 45 0 EIJELK+AdvTT99c4c969 Type 1C WinAnsi yes yes no 18 0 EIJFIG+AdvTT7329fd89.I Type 1C WinAnsi yes yes no 19 0 EIJFKI+AdvTT86d47313 Type 1C WinAnsi yes yes no 13 0 EIJFKJ+AdvTT86d47313+20 Type 1C Custom yes yes yes 14 0 EIJFMJ+AdvTT8861b38f.I Type 1C WinAnsi yes yes no 167 0 EIJILI+AdvTT1b53b5fb.I Type 1C WinAnsi yes yes no 168 0 EIJPLO+AdvTTb5929f4c+22 Type 1C Custom yes yes no 362 0 EIKAAN+AdvTT83913201.I Type 1C WinAnsi yes yes no 46 0 EIKDBL+AdvTT86d47313+22 Type 1C Custom yes yes yes 508 0 EIKFGP+AdvTT86d47313+21 Type 1C WinAnsi yes yes no 688 0 EIKFGO+AdvTT86d47313+03 Type 1C Custom yes yes yes 689 0 EIKGBP+AdvP4C4E51 Type 1C WinAnsi yes yes no 65 0 EIKGBN+AdvP4C4E74 Type 1C Custom yes yes yes 102 0 EIKGBO+AdvP4C4E59 Type 1C WinAnsi yes yes no 60 0 EIKGBM+AdvTT8861b38f.I+03 Type 1C Custom yes yes yes 142 0 EIKGGO+AdvTT43ccf47d Type 1C WinAnsi yes yes no 204 0 EIKGGP+AdvTT716680a6+25 Type 1C Custom yes yes yes 209 0 EIKGHA+AdvTT43ccf47d+22 Type 1C Custom yes yes yes 217 0 EIKGIA+AdvP4C4E46 Type 1C WinAnsi yes yes no 241 0 EIKGKB+AdvTT99c4c969+20 Type 1C WinAnsi yes yes no 43 0 EIKHAA+AdvTTaf7f9f4f.B+20 Type 1C WinAnsi yes yes no 469 0 EIKGPP+AdvTTb5929f4c+01 Type 1C Custom yes yes yes 470 0 Jhove (Rel. 1.28.0, 2023-05-18) Date: 2024-10-02 03:26:30 CEST RepresentationInformation: pmc_33781308.pdf ReportingModule: PDF-hul, Rel. 1.12.4 (2023-03-16) LastModified: 2023-03-31 12:09:18 CEST Size: 2125678 Format: PDF Version: 1.3 Status: Well-Formed and valid SignatureMatches: PDF-hul MIMEtype: application/pdf PDFMetadata: Objects: 942 FreeObjects: 1 IncrementalUpdates: 0 DocumentCatalog: PageLayout: SinglePage PageMode: UseNone Outlines: Item: Title: Abstract Destination: sectionAbs1 Children: Item: Title: Background Destination: sectionASec1 Item: Title: Results Destination: sectionASec2 Item: Title: Conclusions Destination: sectionASec3 Item: Title: Introduction Destination: sectionSec1 Item: Title: Results Destination: sectionSec2 Children: Item: Title: The detection of simulated somatic SNVs in DNA mixing experiments Destination: sectionSec3 Item: Title: The generation of a somatic SNV call set from a neurotypical brain sample Destination: sectionSec4 Item: Title: Sources of false-positive SNV calls and filtering strategies Destination: sectionSec5 Children: Item: Title: Germline SNPs Destination: sectionSec6 Item: Title: Sequencing and/or mapping artifacts Destination: sectionSec7 Item: Title: Genomic context Destination: sectionSec8 Item: Title: Unrelated samples and replicate samples Destination: sectionSec9 Item: Title: Best practices for calling mosaic SNVs Destination: sectionSec10 Item: Title: Using somatic SNVs to recreate cell lineage trees Destination: sectionSec11 Item: Title: Discussion Destination: sectionSec12 Item: Title: Methods Destination: sectionSec13 Children: Item: Title: Data generation Destination: sectionSec14 Children: Item: Title: Mixing experiment (Mount Sinai School of Medicine, contributed by Attila G. Jones) Destination: sectionSec15 Item: Title: Sample processing (Lieber Institute for Brain Development, contributed by Daniel Weinberger) Destination: sectionSec16 Item: Title: Whole-exome sequencing replicate 1 (University of Michigan, contributed by Sarah Emery and Yifan Wang) Destination: sectionSec17 Item: Title: Whole-exome sequencing replicate 2 (University of California San Diego, contributed by Laurel Ball) Destination: sectionSec18 Item: Title: Whole-genome sequencing replicate 3 (Yale University and Institut de Biologia Evolutiva, contributed by Irene Lobon) Destination: sectionSec19 Item: Title: Whole-genome sequencing replicate 4 (Lieber Institute for Brain Development, contributed by Rujuta Narurkar and Joo Heon Shin) Destination: sectionSec20 Item: Title: Whole-genome sequencing replicate 5 (Harvard University, contributed by Javier Ganz) Destination: sectionSec21 Item: Title: Whole-genome sequencing replicate 6 (Yale University, contributed by Liana Fasching) Destination: sectionSec22 Item: Title: Whole genome sequencing of single cells (Yale University and Stanford University, contributed by Liana Fasching, Livia Tomasini, and Bo Zhou) Destination: sectionSec23 Item: Title: Chromium linked read sequencing (University of Michigan, contributed by Sarah Emery and Yifan Wang) Destination: sectionSec24 Item: Title: Data uniform processing at Amazon Web Services (Mayo Clinic, contributed by Taejeong Bae) Destination: sectionSec25 Item: Title: Calling variants in the reference brain Destination: sectionSec26 Children: Item: Title: Method 1 (University of California in San Diego, contributed by Xiaoxu Yang) Destination: sectionSec27 Item: Title: Method 2 (Yale University and Institut de Biologia Evolutiva, contributed by Irene Lobon) Destination: sectionSec28 Item: Title: Method 3 (Harvard University, contributed by Alon Galor and Max Sherman) Destination: sectionSec29 Item: Title: Method 4 (Kennedy Krieger Institute, contributed by Jeremy Thorpe) Destination: sectionSec30 Item: Title: Method 5 (Mayo Clinic, contributed by Taejeong Bae) Destination: sectionSec31 Item: Title: Method 6 (University of Michigan, contributed by Yifan Wang) Destination: sectionSec32 Item: Title: Validation with targeted PCR amplicon-based sequencing approaches Destination: sectionSec33 Children: Item: Title: Amplicon 1 (Yale University, contributed by Liana Fasching and Simone Tomasi) Destination: sectionSec34 Item: Title: Amplicon 2 (University of Michigan, contributed by Sarah Emery and Yifan Wang) Destination: sectionSec35 Item: Title: Amplicon 3 (Mount Sinai School of Medicine, contributed by Chaggai Rosenbluh) Destination: sectionSec36 Item: Title: Amplicon 4 (Harvard University, contributed by Javier Ganz) Destination: sectionSec37 Item: Title: Amplicon 5 (Kennedy Krieger Institute, contributed by Jeremy Thorpe) Destination: sectionSec38 Item: Title: Amplicon sequencing data analysis pipeline (University of Michigan, contributed by Yifan Wang) Destination: sectionSec39 Item: Title: Variant validation using single cells (Harvard University, contributed by Alon Galor and Max Sherman) Destination: sectionSec40 Item: Title: Variant validation using 10X linked read data (University of Michigan, contributed by Yifan Wang and Jeffrey Kidd) Destination: sectionSec41 Item: Title: Variant validation using ddPCR (Stanford University, contributed by Reenal Pattni) Destination: sectionSec42 Item: Title: Validation result consolidation (University of Michigan and Mayo Clinic, contributed by Yifan Wang and Alexej Abyzov) Destination: sectionSec43 Item: Title: Panel of normal (PON) mask using 1000 genomes 2504 whole-genome sequencing libraries (University of Michigan, contributed by Yifan Wang and Jeffrey Kidd) Destination: sectionSec44 Item: Title: Classifying false-positive calls (Harvard University, contributed by Max Sherman) Destination: sectionSec45 Item: Title: Naive Bayes classifier combining validation approaches (Harvard University, contributed by Max Sherman) Destination: sectionSec46 Item: Title: Implementation of the best practices workflow (Mayo Clinic, contributed by Taejeong Bae) Destination: sectionSec47 Item: Title: Cell lineage tree reconstruction (Mayo Clinic, contributed by Taejeong Bae) Destination: sectionSec48 Item: Title: Predicting early cell lineages from bulk DNA (Mayo Clinic, contributed by Taejeong Bae) Destination: sectionSec49 Item: Title: Supplementary Information Destination: sectionSec50 Item: Title: Acknowledgements Destination: section1 Item: Title: Review history Destination: sectionFPar1 Item: Title: Peer review information Destination: sectionFPar2 Item: Title: Authors’ contributions Destination: section2 Item: Title: Funding Destination: section3 Item: Title: Availability of data and materials Destination: section4 Item: Title: Ethics approval and consent to participate Destination: sectionFPar3 Item: Title: Competing interests Destination: sectionFPar4 Item: Title: 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Sherman Attila G. Jones Sean Cho Kenneth Daily Yanmei Dou Javier Ganz Alon Galor Irene Lobon Reenal Pattni Chaggai Rosenbluh Simone Tomasi Livia Tomasini Xiaoxu Yang Bo Zhou Schahram Akbarian Laurel L. Ball Sara Bizzotto Sarah B. Emery Ryan Doan Liana Fasching Yeongjun Jang David Juan Esther Lizano Lovelace J. Luquette John B. Moldovan Rujuta Narurkar Matthew T. Oetjens Rachel E. Rodin Shobana Sekar Joo Heon Shin Eduardo Soriano Richard E. Straub Weichen Zhou Andrew Chess Joseph G. Gleeson Tomas Marquès-Bonet Peter J. Park Mette A. Peters Jonathan Pevsner Christopher A. Walsh Daniel R. Weinberger Flora M. Vaccarino John V. Moran Alexander E. Urban Jeffrey M. Kidd Ryan E. 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