{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,16]],"date-time":"2026-05-16T20:50:01Z","timestamp":1778964601515,"version":"3.51.4"},"reference-count":8,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2017,9,28]],"date-time":"2017-09-28T00:00:00Z","timestamp":1506556800000},"content-version":"vor","delay-in-days":1,"URL":"https:\/\/academic.oup.com\/journals\/pages\/about_us\/legal\/notices"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,2,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Motivation<\/jats:title>\n                    <jats:p>Whole genome sequencing is becoming a diagnostics of choice for the identification of rare inherited and de novo copy number variants in families with various pediatric and late-onset genetic diseases. However, joint variant calling in pedigrees is hampered by the complexity of consensus breakpoint alignment across samples within an arbitrary pedigree structure.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>We have developed a new tool, Canvas SPW, for the identification of inherited and de novo copy number variants from pedigree sequencing data. Canvas SPW supports a number of family structures and provides a wide range of scoring and filtering options to automate and streamline identification of de novo variants.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Availability and implementation<\/jats:title>\n                    <jats:p>Canvas SPW is available for download from https:\/\/github.com\/Illumina\/canvas.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Supplementary information<\/jats:title>\n                    <jats:p>Supplementary data are available at Bioinformatics online.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/bioinformatics\/btx618","type":"journal-article","created":{"date-parts":[[2017,9,26]],"date-time":"2017-09-26T07:09:36Z","timestamp":1506409776000},"page":"516-518","source":"Crossref","is-referenced-by-count":16,"title":["Canvas SPW: calling\n                    <i>de novo<\/i>\n                    copy number variants in pedigrees"],"prefix":"10.1093","volume":"34","author":[{"given":"Sergii","family":"Ivakhno","sequence":"first","affiliation":[{"name":"Illumina Cambridge Ltd., Chesterford Research Park, Little Chesterford, Essex, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eric","family":"Roller","sequence":"additional","affiliation":[{"name":"Illumina Inc., San Diego, CA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Camilla","family":"Colombo","sequence":"additional","affiliation":[{"name":"Illumina Cambridge Ltd., Chesterford Research Park, Little Chesterford, Essex, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philip","family":"Tedder","sequence":"additional","affiliation":[{"name":"Illumina Cambridge Ltd., Chesterford Research Park, Little Chesterford, Essex, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anthony 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