Jorg Hakenberg
Overview
Explore the profile of Jorg Hakenberg including associated specialties, affiliations and a list of published articles.
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31
Citations
1500
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Recent Articles
1.
Sundaram L, Gao H, Padigepati S, McRae J, Li Y, Kosmicki J, et al.
Nat Genet
. 2018 Dec;
51(2):364.
PMID: 30559491
In the version of this article originally published, the name of author Serafim Batzoglou was misspelled. The error has been corrected in the HTML and PDF versions of the article.
2.
Quigley D, Dang H, Zhao S, Lloyd P, Aggarwal R, Alumkal J, et al.
Cell
. 2018 Oct;
175(3):889.
PMID: 30340047
No abstract available.
3.
Sundaram L, Gao H, Padigepati S, McRae J, Li Y, Kosmicki J, et al.
Nat Genet
. 2018 Jul;
50(8):1161-1170.
PMID: 30038395
Millions of human genomes and exomes have been sequenced, but their clinical applications remain limited due to the difficulty of distinguishing disease-causing mutations from benign genetic variation. Here we demonstrate...
4.
Quigley D, Dang H, Zhao S, Lloyd P, Aggarwal R, Alumkal J, et al.
Cell
. 2018 Jul;
174(3):758-769.e9.
PMID: 30033370
While mutations affecting protein-coding regions have been examined across many cancers, structural variants at the genome-wide level are still poorly defined. Through integrative deep whole-genome and -transcriptome analysis of 101...
5.
Chen B, Solis-Villa C, Hakenberg J, Qiao W, Srinivasan R, Yasuda M, et al.
Hum Mutat
. 2016 Aug;
37(11):1215-1222.
PMID: 27539938
Acute intermittent porphyria results from hydroxymethylbilane synthase (HMBS) mutations that markedly decrease HMBS enzymatic activity. This dominant disease is diagnosed when heterozygotes have life-threatening acute attacks, while most heterozygotes remain...
6.
Glicksberg B, Li L, Badgeley M, Shameer K, Kosoy R, Beckmann N, et al.
Bioinformatics
. 2016 Jun;
32(12):i101-i110.
PMID: 27307606
Motivation: Underrepresentation of racial groups represents an important challenge and major gap in phenomics research. Most of the current human phenomics research is based primarily on European populations; hence it...
7.
Thomas P, Rocktaschel T, Hakenberg J, Lichtblau Y, Leser U
Bioinformatics
. 2016 Jun;
32(18):2883-5.
PMID: 27256315
Unlabelled: : Descriptions of genetic variations and their effect are widely spread across the biomedical literature. However, finding all mentions of a specific variation, or all mentions of variations in...
8.
Chen R, Shi L, Hakenberg J, Naughton B, Sklar P, Zhang J, et al.
Nat Biotechnol
. 2016 Apr;
34(5):531-8.
PMID: 27065010
Genetic studies of human disease have traditionally focused on the detection of disease-causing mutations in afflicted individuals. Here we describe a complementary approach that seeks to identify healthy individuals resilient...
9.
Hakenberg J, Cheng W, Thomas P, Wang Y, Uzilov A, Chen R
BMC Bioinformatics
. 2016 Jan;
17:24.
PMID: 26746786
Background: Data from a plethora of high-throughput sequencing studies is readily available to researchers, providing genetic variants detected in a variety of healthy and disease populations. While each individual cohort...
10.
Cheng W, Hakenberg J, Li S, Chen R
Bioinformatics
. 2015 Sep;
32(1):151-3.
PMID: 26363178
Motivation: A plethora of sequenced and genotyped disease cohorts is available to the biomedical research community, spread across many portals and represented in various formats. Results: We have gathered several...