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

Blood-based RNA-Seq of 5412 individuals with rare disease identifies new candidate diagnoses in the National Genomic Research Library

对5412名罕见病患者进行基于血液的RNA测序,在国家基因组研究图书馆中发现了新的候选诊断。

Lord, Jenny; Pagnamenta, Alistair T; Vestito, Letizia; Walker, Susan; Oquendo, Carolina Jaramillo; McGuigan, Anthony Ef; Ho, Alexander; Odhams, Christopher; Jacobsen, Julius Ob; Mehta, Sarju; Reid, Evan; O'Driscoll, Mary; Watson, Christopher M; Crinnion, Laura A; Robinson, Rachel L; Musgrave, Hannah; Martin, Richard J; James, Terena P; Ross, Mark T; Kyritsi, Marianna; Carnielli, Leonardo; Walker, Nicholas; Vucenovic, Dunja; Maheswari, Uma; Baralle, Francisco E; Taylor, Jenny C; Ellingford, Jamie M; Kasperaviciute, Dalia; Hoa, Lily; Elgar, Greg; Brown, Matthew A; Smedley, Damian; Baralle, Diana

Large-Scale Pharmacogenomics Analysis of Patients With Cancer Within the 100,000 Genomes Project Combining Whole-Genome Sequencing and Medical Records to Inform Clinical Practice

在“十万基因组计划”中,对癌症患者进行大规模药物基因组学分析,结合全基因组测序和医疗记录,为临床实践提供信息。

Leong, Ivone U S; Cabrera, Claudia P; Cipriani, Valentina; Ross, Paul J; Turner, Richard M; Stuckey, Alex; Sanghvi, Sonali; Pasko, Dorota; Moutsianas, Loukas; Odhams, Christopher A; Elgar, Greg S; Chan, Georgia; Giess, Adam; Walker, Susan; Foulger, Rebecca E; Williams, Eleanor M; Daugherty, Louise C; Rueda-Martin, Antonio; Rhodes, Daniel J; Niblock, Olivia; Pickard, Alexandra; Marks, Lauren; Leigh, Sarah E A; Welland, Matthew J; Bleda, Marta; Snow, Catherine; Deans, Zandra; Murugaesu, Nirupa; Scott, Richard H; Barnes, Michael R; Brown, Matthew A; Rendon, Augusto; Hill, Sue; Sosinsky, Alona; Caulfield, Mark J; McDonagh, Ellen M

Clinical utility of 'Shaken' biopsies for whole-genome sequencing

“摇晃式”活检在全基因组测序中的临床应用

Nelan, Rachel; Mijuskovic, Martina; Hughes, Martina; Becq, Jennifer; Kingsbury, Zoya; Tsogka, Eleni; He, Miao; Vucenovic, Dunja; Craig, Clare; Elgar, Greg; Levey, Pauline; Suaris, Tamara; Walsh, Emma; Ross, Mark; Jones, J Louise

Large-scale analysis of whole genome sequencing data from formalin-fixed paraffin-embedded cancer specimens demonstrates preservation of clinical utility

对福尔马林固定石蜡包埋癌症标本的全基因组测序数据进行大规模分析表明,其临床实用性得以保留。

Basyuni, Shadi; Heskin, Laura; Degasperi, Andrea; Black, Daniella; Koh, Gene C C; Chmelova, Lucia; Rinaldi, Giuseppe; Bell, Steven; Grybowicz, Louise; Elgar, Greg; Memari, Yasin; Robbe, Pauline; Kingsbury, Zoya; Caldas, Carlos; Abraham, Jean; Schuh, Anna; Jones, Louise; Tischkowitz, Marc; Brown, Matthew A; Davies, Helen R; Nik-Zainal, Serena

A Comparison of Structural Variant Calling from Short-Read and Nanopore-Based Whole-Genome Sequencing Using Optical Genome Mapping as a Benchmark.

以光学基因组图谱为基准,比较基于短读长和纳米孔的全基因组测序的结构变异检测。

Pei Yang, Tanguy Melanie, Giess Adam, Dixit Abhijit, Wilson Louise C, Gibbons Richard J, Twigg Stephen R F, Elgar Greg, Wilkie Andrew O M

Nuclear-embedded mitochondrial DNA sequences in 66,083 human genomes

66,083个人类基因组中的核内线粒体DNA序列

Wei, Wei; Schon, Katherine R; Elgar, Greg; Orioli, Andrea; Tanguy, Melanie; Giess, Adam; Tischkowitz, Marc; Caulfield, Mark J; Chinnery, Patrick F

Whole-genome sequencing reveals host factors underlying critical COVID-19

全基因组测序揭示了导致新冠肺炎重症的宿主因素

Kousathanas, Athanasios; Pairo-Castineira, Erola; Rawlik, Konrad; Stuckey, Alex; Odhams, Christopher A; Walker, Susan; Russell, Clark D; Malinauskas, Tomas; Wu, Yang; Millar, Jonathan; Shen, Xia; Elliott, Katherine S; Griffiths, Fiona; Oosthuyzen, Wilna; Morrice, Kirstie; Keating, Sean; Wang, Bo; Rhodes, Daniel; Klaric, Lucija; Zechner, Marie; Parkinson, Nick; Siddiq, Afshan; Goddard, Peter; Donovan, Sally; Maslove, David; Nichol, Alistair; Semple, Malcolm G; Zainy, Tala; Maleady-Crowe, Fiona; Todd, Linda; Salehi, Shahla; Knight, Julian; Elgar, Greg; Chan, Georgia; Arumugam, Prabhu; Patch, Christine; Rendon, Augusto; Bentley, David; Kingsley, Clare; Kosmicki, Jack A; Horowitz, Julie E; Baras, Aris; Abecasis, Goncalo R; Ferreira, Manuel A R; Justice, Anne; Mirshahi, Tooraj; Oetjens, Matthew; Rader, Daniel J; Ritchie, Marylyn D; Verma, Anurag; Fowler, Tom A; Shankar-Hari, Manu; Summers, Charlotte; Hinds, Charles; Horby, Peter; Ling, Lowell; McAuley, Danny; Montgomery, Hugh; Openshaw, Peter J M; Elliott, Paul; Walsh, Timothy; Tenesa, Albert; Fawkes, Angie; Murphy, Lee; Rowan, Kathy; Ponting, Chris P; Vitart, Veronique; Wilson, James F; Yang, Jian; Bretherick, Andrew D; Scott, Richard H; Hendry, Sara Clohisey; Moutsianas, Loukas; Law, Andy; Caulfield, Mark J; Baillie, J Kenneth

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.

VWA1 基因中 10 bp 的祖先重复序列扩增导致隐性遗传性运动神经病

Pagnamenta Alistair T, Kaiyrzhanov Rauan, Zou Yaqun, Da'as Sahar I, Maroofian Reza, Donkervoort Sandra, Dominik Natalia, Lauffer Marlen, Ferla Matteo P, Orioli Andrea, Giess Adam, Tucci Arianna, Beetz Christian, Sedghi Maryam, Ansari Behnaz, Barresi Rita, Basiri Keivan, Cortese Andrea, Elgar Greg, Fernandez-Garcia Miguel A, Yip Janice, Foley A Reghan, Gutowski Nicholas, Jungbluth Heinz, Lassche Saskia, Lavin Tim, Marcelis Carlo, Marks Peter, Marini-Bettolo Chiara, Medne Livija, Moslemi Ali-Reza, Sarkozy Anna, Reilly Mary M, Muntoni Francesco, Millan Francisca, Muraresku Colleen C, Need Anna C, Nemeth Andrea H, Neuhaus Sarah B, Norwood Fiona, O'Donnell Marie, O'Driscoll Mary, Rankin Julia, Yum Sabrina W, Zolkipli-Cunningham Zarazuela, Brusius Isabell, Wunderlich Gilbert, Karakaya Mert, Wirth Brunhilde, Fakhro Khalid A, Tajsharghi Homa, Bönnemann Carsten G, Taylor Jenny C, Houlden Henry

The sea lamprey germline genome provides insights into programmed genome rearrangement and vertebrate evolution

海七鳃鳗的生殖系基因组为研究程序性基因组重排和脊椎动物进化提供了重要线索

Smith, Jeramiah J; Timoshevskaya, Nataliya; Ye, Chengxi; Holt, Carson; Keinath, Melissa C; Parker, Hugo J; Cook, Malcolm E; Hess, Jon E; Narum, Shawn R; Lamanna, Francesco; Kaessmann, Henrik; Timoshevskiy, Vladimir A; Waterbury, Courtney K M; Saraceno, Cody; Wiedemann, Leanne M; Robb, Sofia M C; Baker, Carl; Eichler, Evan E; Hockman, Dorit; Sauka-Spengler, Tatjana; Yandell, Mark; Krumlauf, Robb; Elgar, Greg; Amemiya, Chris T

c-Maf controls immune responses by regulating disease-specific gene networks and repressing IL-2 in CD4(+) T cells.

c-Maf 通过调节疾病特异性基因网络和抑制 CD4(+) T 细胞中的 IL-2 来控制免疫反应

Gabryšová Leona, Alvarez-Martinez Marisol, Luisier Raphaëlle, Cox Luke S, Sodenkamp Jan, Hosking Caroline, Pérez-Mazliah Damián, Whicher Charlotte, Kannan Yashaswini, Potempa Krzysztof, Wu Xuemei, Bhaw Leena, Wende Hagen, Sieweke Michael H, Elgar Greg, Wilson Mark, Briscoe James, Metzis Vicki, Langhorne Jean, Luscombe Nicholas M, O'Garra Anne