日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Multimodal cell-free DNA whole-genome TAPS is sensitive and reveals specific cancer signals

多模态无细胞DNA全基因组TAPS技术灵敏度高,能够揭示特定的癌症信号。

Vavoulis, Dimitrios V; Cutts, Anthony; Thota, Nishita; Brown, Jordan; Sugar, Robert; Rueda, Antonio; Ardalan, Arman; Howard, Kieran; Matos Santo, Flavia; Sannasiddappa, Thippesh; Miller, Bronwen; Ash, Stephen; Liu, Yibin; Song, Chun-Xiao; Nicholson, Brian D; Dreau, Helene; Tregidgo, Carolyn; Schuh, Anna

Diagnosing Burkitt Lymphoma in Sub-Saharan Africa by Sequencing of Circulating Tumor DNA: A Comparative Microcosting Study

利用循环肿瘤DNA测序诊断撒哈拉以南非洲伯基特淋巴瘤:一项比较微观成本研究

Morrell, Liz; Tungu, Malale; Achola, Caroline; Legason, Ismail; Magorosa, Erick; Mapendo, Priscus; Mnango, Leah; Mremi, Alex; Christopher, Heavenlight; Josephat, Emmanuel; Burns, Adam; Dreau, Helene; Leonte, Mihaela; Chirande, Lulu; Mahawi, Salama; Mkwizu, Elifuraha; Mwamtemi, Hadija; Sandi, Godlove; El Mouden, Claire; Schuh, Anna; Ruhago, George; Wordsworth, Sarah

Fine-scale contemporary recombination variation and its fitness consequences in adaptively diverging stickleback fish

适应性分化的刺鱼中精细尺度的当代重组变异及其适应性后果

Vrinda Venu,Enni Harjunmaa,Andreea Dreau,Shannon Brady,Devin Absher,David M Kingsley,Felicity C Jones

RAS-pathway mutations are common in patients with ruxolitinib refractory/intolerant myelofibrosis: molecular analysis of the PAC203 cohort

RAS通路突变在鲁索替尼耐药/不耐受的骨髓纤维化患者中很常见:PAC203队列的分子分析

O'Sullivan, J M; Taylor, J; Gerds, A; Buckley, S; Harrison, C N; Oh, S; List, A F; Howard, K; Dreau, H; Hamblin, A; Mead, A J

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases

结构和非编码变异提高了罕见疾病临床全基因组测序的诊断率

Alistair T Pagnamenta #, Carme Camps #, Edoardo Giacopuzzi #, John M Taylor #, Mona Hashim, Eduardo Calpena, Pamela J Kaisaki, Akiko Hashimoto, Jing Yu, Edward Sanders, Ron Schwessinger, Jim R Hughes, Gerton Lunter, Helene Dreau, Matteo Ferla, Lukas Lange, Yesim Kesim, Vassilis Ragoussis, Dimitrios

Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening

与免疫功能障碍和心肌病相关的双等位基因MCM10变异会导致端粒缩短。

Ryan M Baxley ,Wendy Leung # ,Megan M Schmit # ,Jacob Peter Matson # ,Lulu Yin ,Marissa K Oram ,Liangjun Wang ,John Taylor ,Jack Hedberg ,Colette B Rogers ,Adam J Harvey ,Debashree Basu ,Jenny C Taylor ,Alistair T Pagnamenta ,Helene Dreau ,Jude Craft ,Elizabeth Ormondroyd ,Hugh Watkins ,Eric A Hendrickson ,Emily M Mace ,Jordan S Orange ,Hideki Aihara ,Grant S Stewart ,Edward Blair ,Jeanette Gowen Cook ,Anja-Katrin Bielinsky

FOXN1 forms higher-order nuclear condensates displaced by mutations causing immunodeficiency

FOXN1形成高级核凝聚体,这些凝聚体因突变而发生位移,从而导致免疫缺陷。

Ioanna A Rota ,Adam E Handel ,Stefano Maio ,Fabian Klein ,Fatima Dhalla ,Mary E Deadman ,Stanley Cheuk ,Joseph A Newman ,Yale S Michaels ,Saulius Zuklys ,Nicolas Prevot ,Philip Hublitz ,Philip D Charles ,Athina Soragia Gkazi ,Eleni Adamopoulou ,Waseem Qasim ,Edward Graham Davies ,Imelda Hanson ,Alistair T Pagnamenta ,Carme Camps ,Helene M Dreau ,Andrea White ,Kieran James ,Roman Fischer ,Opher Gileadi ,Jenny C Taylor ,Tudor Fulga ,B Christoffer Lagerholm ,Graham Anderson ,Erdinc Sezgin ,Georg A Holländer

Validation of clinical-grade whole genome sequencing reproduces cytogenetic analysis and identifies mutational landscape in newly-diagnosed multiple myeloma patients: A pilot study from the 100,000 Genomes Project

临床级全基因组测序的验证结果与细胞遗传学分析相符,并能识别新诊断的多发性骨髓瘤患者的突变图谱:来自“十万基因组计划”的一项试点研究

Lomas, Oliver C; Gooding, Sarah; Cabes, Maite; Dreau, Helene; Wilson, Edward; Polzella, Paolo; Ramasamy, Karthik; Hamblin, Angela D

The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom

基因组测序的全部成本:英国一家中心针对癌症和罕见病开展的微观成本研究

Schwarze, Katharina; Buchanan, James; Fermont, Jilles M; Dreau, Helene; Tilley, Mark W; Taylor, John M; Antoniou, Pavlos; Knight, Samantha J L; Camps, Carme; Pentony, Melissa M; Kvikstad, Erika M; Harris, Steve; Popitsch, Niko; Pagnamenta, Alistair T; Schuh, Anna; Taylor, Jenny C; Wordsworth, Sarah

Correction: Whole-genome sequencing of chronic lymphocytic leukaemia reveals distinct differences in the mutational landscape between IgHV(mut) and IgHV(unmut) subgroups

更正:慢性淋巴细胞白血病的全基因组测序揭示了IgHV(mut)和IgHV(unmut)亚组之间突变图谱的明显差异。

Burns, A; Alsolami, R; Becq, J; Stamatopoulos, B; Timbs, A; Bruce, D; Robbe, P; Vavoulis, D; Clifford, R; Cabes, M; Dreau, H; Taylor, J; Knight, S J L; Mansson, R; Bentley, D; Beekman, R; Martín-Subero, J I; Campo, E; Houlston, R S; Ridout, K E; Schuh, A