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Benjamin Neale
Benjamin Neale
Massachusetts General Hospital; Broad Institute; Harvard Medical School
在 broadinstitute.org 的电子邮件经过验证
标题
引用次数
年份
A unified framework for estimating country-specific cumulative incidence for 18 diseases stratified by polygenic risk
B Jermy, K Läll, BN Wolford, Y Wang, K Zguro, Y Cheng, M Kanai, ...
Nature Communications 15 (1), 5007, 2024
32024
Author Correction: Nuclear genetic control of mtDNA copy number and heteroplasmy in humans
R Gupta, M Kanai, TJ Durham, K Tsuo, JG McCoy, AV Kotrys, W Zhou, ...
Nature, 1-1, 2024
2024
A harmonized public resource of deeply sequenced diverse human genomes
Z Koenig, MT Yohannes, LL Nkambule, X Zhao, JK Goodrich, HA Kim, ...
Genome Research, 2024
182024
Antipsychotic medications and sleep problems in patients with schizophrenia
E Cederlöf, M Holm, H Taipale, J Tiihonen, A Tanskanen, M Lähteenvuo, ...
Schizophrenia Research 267, 230-238, 2024
2024
Blended Genome Exome (BGE) as a Cost Efficient Alternative to Deep Whole Genomes or Arrays
M DeFelice, JL Grimsby, D Howrigan, K Yuan, SB Chapman, C Stevens, ...
bioRxiv, 2024.04. 03.587209, 2024
2024
Genome-wide association study identifies 30 obsessive-compulsive disorder associated loci
NI Strom, ZF Gerring, M Galimberti, D Yu, MW Halvorsen, A Abdellaoui, ...
medRxiv, 2024
2024
Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes
S Chen, LC Francioli, JK Goodrich, RL Collins, M Kanai, Q Wang, J Alföldi, ...
Nature, 1-1, 2024
32024
The Scalable Variant Call Representation: Enabling Genetic Analysis Beyond One Million Genomes
T Poterba, C Vittal, D King, D Goldstein, JI Goldstein, P Schultz, ...
bioRxiv, 2024
2024
A genomic mutational constraint map using variation in 76,156 human genomes
S Chen, LC Francioli, JK Goodrich, RL Collins, M Kanai, Q Wang, J Alföldi, ...
Nature 625 (7993), 92-100, 2024
992024
The landscape of gene loss and missense variation across the mammalian tree informs on gene essentiality
C Liao, R Ye, F Ivankovic, J Fu, RK Walters, C Lowther, E Valkanas, ...
bioRxiv, 2024.05. 16.594531, 2024
2024
Efficient and accurate mixed model association tool for single-cell eQTL analysis
W Zhou, A Cuomo, A Xue, M Kanai, G Chau, C Krishna, RJ Xavier, ...
medRxiv, 2024.05. 15.24307317, 2024
2024
GUIDE deconstructs genetic architectures using association studies
D Lazarev, G Chau, A Bloemendal, C Churchhouse, B Neale
bioRxiv, 2024.05. 03.592285, 2024
2024
Genomic and proteomic evidence for hormonal and metabolic foundations of polycystic ovary syndrome
LME Moolhuijsen, J Zhu, BH Mullin, N Pujol-Gualdo, KEV Actkins, ...
medRxiv, 2024.04. 18.24306020, 2024
2024
The landscape of regional missense mutational intolerance quantified from 125,748 exomes
KR Chao, L Wang, R Panchal, C Liao, H Abderrazzaq, R Ye, P Schultz, ...
bioRxiv, 2024.04. 11.588920, 2024
2024
Pan-UK Biobank GWAS improves discovery, analysis of genetic architecture, and resolution into ancestry-enriched effects
KJ Karczewski, R Gupta, M Kanai, W Lu, K Tsuo, Y Wang, RK Walters, ...
medRxiv, 2024.03. 13.24303864, 2024
52024
O43: Analysis of> 800,000 diverse sequenced humans in gnomAD improves clinical interpretation and provides insight into gene function
H Rehm, J Goodrich, K Chao, K Laricchia, M Wilson, J Fu, G Tiao, Q He, ...
Genetics in Medicine Open 2, 2024
2024
O11: An atlas of 1.2 M structural variants across global populations in the Genome Aggregation Database (gnomAD)
H Brand, X Zhao, J Fu, R Collins, I Wong, C Liao, L Wang, S Baxter, ...
Genetics in Medicine Open 2, 2024
2024
Polygenic risk scores from multi-ancestry GWAS of> 450 phenotypes in the Pan-UK Biobank Project offer insights into impacts of genetic architecture, ancestry, and statistical …
K Tsuo, Y Wang, K Karczewski, R Gupta, M Kanai, N Baya, R Walters, ...
EUROPEAN JOURNAL OF HUMAN GENETICS 32, 11-11, 2024
2024
Inferring compound heterozygosity from large-scale exome sequencing data
MH Guo, LC Francioli, SL Stenton, JK Goodrich, NA Watts, M Singer-Berk, ...
Nature Genetics 56 (1), 152-161, 2024
62024
Improving fine-mapping by modeling infinitesimal effects
R Cui, RA Elzur, M Kanai, JC Ulirsch, O Weissbrod, MJ Daly, BM Neale, ...
Nature Genetics 56 (1), 162-169, 2024
142024
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