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

GUIDE deconstructs genetic architectures using association studies

GUIDE 利用关联研究来解构遗传结构

Lazarev, Daniel; Chau, Grant; Bloemendal, Alex; Churchhouse, Claire; Neale, Benjamin M

Scalable automated reanalysis of genomic data in research and clinical rare disease cohorts

可扩展的基因组数据自动化再分析在研究和临床罕见病队列中的应用

Welland, Matthew J; Ahlquist, K D; De Fazio, Paul; Austin-Tse, Christina; Pais, Lynn; Wedd, Laura; Bryen, Samantha; Rius, Rocio; Franklin, Michael; Morrison, Caitlin; Hall, Giles; Gauthier, Laura; Bloemendal, Alex; Francis, David I; Mallett, Andrew J; Mallawaarachchi, Amali; Lockhart, Paul J; Leventer, Richard; Scheffer, Ingrid E; Howell, Katherine B; Kassahn, Karin S; Scott, Hamish S; McGaughran, Julie; Christodoulou, John; Thorburn, David R; Thompson, Bryony A; Patel, Chirag V; Smith, Greg; O'Donnell-Luria, Anne; Sadedin, Simon; Rehm, Heidi L; Lunke, Sebastian; Wander, Jeremiah; Samocha, Kaitlin E; Simons, Cas; MacArthur, Daniel G; Stark, Zornitza

Analysis of genetic dominance in the UK Biobank

英国生物银行中遗传优势的分析

Palmer, Duncan S; Zhou, Wei; Abbott, Liam; Wigdor, Emilie M; Baya, Nikolas; Churchhouse, Claire; Seed, Cotton; Poterba, Tim; King, Daniel; Kanai, Masahiro; Bloemendal, Alex; Neale, Benjamin M

Inferring gene regulation from stochastic transcriptional variation across single cells at steady state.

从稳态下单个细胞的随机转录变异推断基因调控

Gupta Anika, Martin-Rufino Jorge D, Jones Thouis R, Subramanian Vidya, Qiu Xiaojie, Grody Emanuelle I, Bloemendal Alex, Weng Chen, Niu Sheng-Yong, Min Kyung Hoi, Mehta Arnav, Zhang Kaite, Siraj Layla, Al' Khafaji Aziz, Sankaran Vijay G, Raychaudhuri Soumya, Cleary Brian, Grossman Sharon, Lander Eric S

A data harmonization pipeline to leverage external controls and boost power in GWAS

利用外部控制手段并提高全基因组关联分析(GWAS)效力的数据协调流程

Chen, Danfeng; Tashman, Katherine; Palmer, Duncan S; Neale, Benjamin; Roeder, Kathryn; Bloemendal, Alex; Churchhouse, Claire; Ke, Zheng Tracy

Polygenic adaptation on height is overestimated due to uncorrected stratification in genome-wide association studies

由于全基因组关联研究中未校正的分层效应,多基因适应对身高的影响被高估了。

Sohail, Mashaal; Maier, Robert M; Ganna, Andrea; Bloemendal, Alex; Martin, Alicia R; Turchin, Michael C; Chiang, Charleston Wk; Hirschhorn, Joel; Daly, Mark J; Patterson, Nick; Neale, Benjamin; Mathieson, Iain; Reich, David; Sunyaev, Shamil R

PINES: phenotype-informed tissue weighting improves prediction of pathogenic noncoding variants

PINES:基于表型信息的组织权重提高了对致病性非编码变异的预测能力

Bodea, Corneliu A; Mitchell, Adele A; Bloemendal, Alex; Day-Williams, Aaron G; Runz, Heiko; Sunyaev, Shamil R

Ultra-rare disruptive and damaging mutations influence educational attainment in the general population

极其罕见的破坏性突变会影响普通人群的教育程度。

Ganna, Andrea; Genovese, Giulio; Howrigan, Daniel P; Byrnes, Andrea; Kurki, Mitja; Zekavat, Seyedeh M; Whelan, Christopher W; Kals, Mart; Nivard, Michel G; Bloemendal, Alex; Bloom, Jonathan M; Goldstein, Jacqueline I; Poterba, Timothy; Seed, Cotton; Handsaker, Robert E; Natarajan, Pradeep; Mägi, Reedik; Gage, Diane; Robinson, Elise B; Metspalu, Andres; Salomaa, Veikko; Suvisaari, Jaana; Purcell, Shaun M; Sklar, Pamela; Kathiresan, Sekar; Daly, Mark J; McCarroll, Steven A; Sullivan, Patrick F; Palotie, Aarno; Esko, Tõnu; Hultman, Christina; Neale, Benjamin M