https://m2.mtmt.hu/ eng 2026-07-26 18:53 JournalArticle 33832882 VALIDATED true 0 false 2026-05-22T22:57:35.584+0000 2023-07-27T12:26:29.735+0000 2023-05-18T12:22:19.141+0000 true 10015544 Csajbók Edit /api/admin/10015544 Admin true 10015544 2023-05-18T12:25:45.994+0000 2023-05-18T12:25:45.994+0000 2023-05-18T12:25:45.978+0000 true 10015544 Csajbók Edit /api/admin/10015544 Admin true 10015544 true false true 24 24 /api/publicationtype/24 PublicationType 1 true 24 JournalArticle true 10000359 Study Group true 24 24 /api/publicationtype/24 PublicationType 1 true 24 JournalArticle /api/subtype/10000359 Sokszerzős vagy csoportos szerzőségű szakcikk SubType 104 true 10000359 true 1 /api/category/1 Category true 1 Yaldiz, Burcu Twist exome capture allows for lower average sequence coverage in clinical exome sequencing. true true /api/journal/10045389 REVIEWED true false 10045389 false 10045389 true 1473-9542 1479-7364 Journal FOREIGN 17 1 39 39 2023 Exome and genome sequencing are the predominant techniques in the diagnosis and research of genetic disorders. Sufficient, uniform and reproducible/consistent sequence coverage is a main determinant for the sensitivity to detect single-nucleotide (SNVs) and copy number variants (CNVs). Here we compared the ability to obtain comprehensive exome coverage for recent exome capture kits and genome sequencing techniques.We compared three different widely used enrichment kits (Agilent SureSelect Human All Exon V5, Agilent SureSelect Human All Exon V7 and Twist Bioscience) as well as short-read and long-read WGS. We show that the Twist exome capture significantly improves complete coverage and coverage uniformity across coding regions compared to other exome capture kits. Twist performance is comparable to that of both short- and long-read whole genome sequencing. Additionally, we show that even at a reduced average coverage of 70× there is only minimal loss in sensitivity for SNV and CNV detection.We conclude that exome sequencing with Twist represents a significant improvement and could be performed at lower sequence coverage compared to other exome capture techniques. 2023 true true true false false GOLD 2026-05-23 true https://doi.org/10.1186/s40246-023-00485-5 18 0 18 14 0 18 18 16 18 18 18 14 14 14 4 0 18 14 18 14 0 0 0 Folyóiratcikk Journal Article 24 18 Könyvrészlet Chapter in Book 25 0 Könyv Book 23 0 Egyéb konferenciaközlemény Conference paper 31 0 Egyéb konferenciakötet Conference proceedings 32 0 Oltalmi formák Protection forms 26 0 Disszertáció Thesis 28 0 Egyéb Miscellaneous 29 0 Alkotás Achievement 22 0 Kutatási adat Research data 33 0 Folyóiratcikk Journal Article 24 0 0 0 Könyvrészlet Chapter in Book 25 0 0 0 Könyv Book 23 0 0 0 Egyéb konferenciaközlemény Conference paper 31 0 0 0 Egyéb konferenciakötet Conference proceedings 32 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/api/classificationexternal/3002 true 3002 true Q1 DIRECT true true /api/publication/33832882 <div class="JournalArticle Publication long-list"> <div class="authors"> <img title="Forrásközlemény" style="float: left" src="/frontend/resources/grid/publication-core-icon.png"> <div class="autype autype0"> <span class="author-name" >Yaldiz Burcu </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Kucuk Erdi<sup>*</sup> </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Hampstead Juliet </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Hofste Tom </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Pfundt Rolph </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Corominas Galbany Jordi </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Rinne Tuula </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Yntema Helger G </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Hoischen Alexander </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Nelen Marcel </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Gilissen Christian ✉ </span> </div> <div class="autype autype-11"> Collaborator: <span class="author-name" >Riess Olaf </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10032403"><a href="/gui2/?type=authors&mode=browse&sel=10032403" target="_blank">Balicza Peter (<span class="authorship-author-name">Balicza Péter</span> <span class="authorAux-mtmt"> neurogenetika</span>) </a> </span> <span class="author-affil"><span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Instituties">I</span>/Genomic Medicine and the Institute of Rare Diseases</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10002781"><a href="/gui2/?type=authors&mode=browse&sel=10002781" target="_blank">Molnar Maria Judit (<span class="authorship-author-name">Molnár Mária Judit</span> <span class="authorAux-mtmt"> Neurológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Instituties">I</span>/Genomic Medicine and the Institute of Rare Diseases</span> ;&nbsp;&nbsp;&nbsp; et al. (293) </div> <div class="autype autype-29"> Collaborative Organization: <span class="author-affil">Solve-RD consortium</span> </div> <div><a target="_blank" href="/api/publication/33832882?labelLang=eng">All authors</a></div> </div> <div class="title"><a href="/gui2/?mode=browse&params=publication;33832882" target="_blank">Twist exome capture allows for lower average sequence coverage in clinical exome sequencing.</a></div> <div> <span class="journal-title">HUMAN GENOMICS</span> <span class="journal-issn">(<a target="_blank" href="https://portal.issn.org/resource/ISSN/1473-9542">1473-9542</a> <a target="_blank" href="https://portal.issn.org/resource/ISSN/1479-7364">1479-7364</a>)</span>: <span class="journal-volume">17</span> <span class="journal-issue">1</span> <span class="page"> Paper 39. </span> <span class="year">(2023)</span> </div> <div class="pub-footer"> <span class="language" xmlns="http://www.w3.org/1999/html">Language: English | </span> <span class="identifiers"> <span class="id identifier oa_GOLD" title=" Gold "> <a style="color:blue" title="10.1186/s40246-023-00485-5" target="_blank" href="https://doi.org/10.1186/s40246-023-00485-5"> DOI </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="000979939700001" target="_blank" href="https://www.webofscience.com/wos/woscc/full-record/000979939700001"> WoS </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="85158030412" target="_blank" href="http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85158030412"> Scopus </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="37138343" target="_blank" href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=37138343&dopt=Abstract"> PubMed </a> </span> </span> <OnlyViewableByAuthor><div class="ratings"> <div class="journal-subject">Journal subject: Scopus - Drug Discovery&nbsp;&nbsp;&nbsp;Rank:&nbsp;Q1</div> <div class="journal-subject">Journal subject: Scopus - Genetics&nbsp;&nbsp;&nbsp;Rank:&nbsp;Q2</div> <div class="journal-subject">Journal subject: Scopus - Molecular Biology&nbsp;&nbsp;&nbsp;Rank:&nbsp;Q2</div> <div class="journal-subject">Journal subject: Scopus - Molecular Medicine&nbsp;&nbsp;&nbsp;Rank:&nbsp;Q2</div> </div></OnlyViewableByAuthor> <div class="publication-citation" style="margin-left: 0.5cm;"> <span title="" class="citingPub-count">Citing papers: 18</span> | Independent citation: 14 | Self citation: 4 | Unknown citation: 0 | Number of citations in WoS: 16 | Number of citations in Scopus:&nbsp;18 | WoS/Scopus assigned:&nbsp;18 | Number of citations with DOI:&nbsp;18 </div> <div class="mtid"><span class="long-pub-mtid">Publication: 33832882</span> | <span class="status-data status-VALIDATED"> Validated </span> Core | <span class="type-subtype">Journal Article ( Study Group ) </span> | <span class="pub-category">Scientific</span> | <span class="publication-sourceOfData">PubMed XML</span> </div> <div class="lastModified">Last Modified: 2023.07.27. 14:26 Edit Csajbók (SE_KK_Admin5_CSE, admin) </div> </div></div>