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Giuseppe Narzisi

new york genome center
H指数:34
被引数:1.0万

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Accurate somatic small variant discovery for multiple sequencing technologies with DeepSomatic

使用deepsmatoma实现多种测序技术的准确体细胞小变异发现

2025-10-160
PRE
Correction: Development and extensive sequencing of a broadly-consented Genome in a Bottle matched tumor-normal pair

更正:开发和广泛测序一个得到广泛认可的“Genome in a Bottle”匹配的肿瘤-正常配对样本

2025-08-080
OAAI
Development and extensive sequencing of a broadly-consented Genome in a Bottle matched tumor-normal pair

开发并广泛测序一种在Genome in a Bottle框架下获得广泛共识的匹配肿瘤-正常样本对

2025-07-160
OAAI
Severus detects somatic structural variation and complex rearrangements in cancer genomes using long-read sequencing

Severus通过长读长测序检测癌症基因组中的体细胞结构变异和复杂重排

2025-04-041
PRE
Osteocalcin of maternal and embryonic origins synergize to establish homeostasis in offspring

母体和胚胎起源的骨钙素协同建立后代的体内平衡

2024-01-163
OA
Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population

普通人群中致病性AR CAG重复扩增的意外频率

BRAIN
IF11.7
2023-02-1713
OAAI
Benchmarking challenging small variants with linked and long reads

具有链接和长读取的具有挑战性的小变体的基准测试

2022-05-0151
OAAI
Curated variation benchmarks for challenging medically relevant autosomal genes

具有挑战性的医学相关常染色体基因的策划变异基准

2022-02-0776
OAAI
Performance assessment of DNA sequencing platforms in the ABRF Next-Generation Sequencing Study (Sep, 10.1038/s41587-021-01049-5, 2021)
2021-10-112
OA
Performance assessment of DNA sequencing platforms in the ABRF Next-Generation Sequencing Study
2021-09-0969
OAAI
Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism
2021-07-1313
OAAI
The genomic basis of evolutionary differentiation among honey bees

蜜蜂进化分化的基因组基础

2021-05-0418
OA
ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data

ExpansionHunter Denovo: 一种在短读测序数据中定位已知和新颖重复扩增的计算方法

2020-04-28121
OAAI
YES1 amplification is a mechanism of acquired resistance to EGFR inhibitors identified by transposon mutagenesis and clinical genomics
2018-06-0648
OAAI
Detection of long repeat expansions from PCR-free whole-genome sequence data

从无PCR的全基因组序列数据中检测长重复扩增

2017-09-08257
OAAI
Indel variant analysis of short-read sequencing data with Scalpel

用手术刀对短读测序数据进行Indel变异分析

2016-11-1793
OAAI