Aaron L Halpern
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Explore the profile of Aaron L Halpern including associated specialties, affiliations and a list of published articles.
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27
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8536
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Recent Articles
1.
Shinawi M, Wegner D, Paul A, Buchser W, Schmidt R, Sharma J, et al.
Mol Genet Metab
. 2025 Jan;
144(1):109004.
PMID: 39742826
Free sialic acid storage disorder (FSASD) is a rare autosomal recessive lysosomal storage disease caused by pathogenic SLC17A5 variants with variable disease severity. We performed a multidisciplinary evaluation of an...
2.
Gaedigk A, Boone E, Scherer S, Lee S, Numanagic I, Sahinalp C, et al.
J Mol Diagn
. 2022 Feb;
24(4):337-350.
PMID: 35134542
Pharmacogenetic tests typically target selected sequence variants to identify haplotypes that are often defined by star (∗) allele nomenclature. Due to their design, these targeted genotyping assays are unable to...
3.
Chen X, Sanchis-Juan A, French C, Connell A, Delon I, Kingsbury Z, et al.
Genet Med
. 2020 Feb;
22(5):945-953.
PMID: 32066871
Purpose: Spinal muscular atrophy (SMA), caused by loss of the SMN1 gene, is a leading cause of early childhood death. Due to the near identical sequences of SMN1 and SMN2,...
4.
Kim S, Scheffler K, Halpern A, Bekritsky M, Noh E, Kallberg M, et al.
Nat Methods
. 2018 Jul;
15(8):591-594.
PMID: 30013048
We describe Strelka2 ( https://github.com/Illumina/strelka ), an open-source small-variant-calling method for research and clinical germline and somatic sequencing applications. Strelka2 introduces a novel mixture-model-based estimation of insertion/deletion error parameters from...
5.
Eberle M, Fritzilas E, Krusche P, Kallberg M, Moore B, Bekritsky M, et al.
Genome Res
. 2016 Dec;
27(1):157-164.
PMID: 27903644
Improvement of variant calling in next-generation sequence data requires a comprehensive, genome-wide catalog of high-confidence variants called in a set of genomes for use as a benchmark. We generated deep,...
6.
Peters B, Kermani B, Sparks A, Alferov O, Hong P, Alexeev A, et al.
Nature
. 2012 Jul;
487(7406):190-5.
PMID: 22785314
Recent advances in whole-genome sequencing have brought the vision of personal genomics and genomic medicine closer to reality. However, current methods lack clinical accuracy and the ability to describe the...
7.
Carnevali P, Baccash J, Halpern A, Nazarenko I, Nilsen G, Pant K, et al.
J Comput Biol
. 2011 Dec;
19(3):279-92.
PMID: 22175250
Unchained base reads on self-assembling DNA nanoarrays have recently emerged as a promising approach to low-cost, high-quality resequencing of human genomes. Because of unique characteristics of these mated pair reads,...
8.
Dupont C, Rusch D, Yooseph S, Lombardo M, Richter R, Valas R, et al.
ISME J
. 2011 Dec;
6(6):1186-99.
PMID: 22170421
Bacteria in the 16S rRNA clade SAR86 are among the most abundant uncultivated constituents of microbial assemblages in the surface ocean for which little genomic information is currently available. Bioinformatic...
9.
Rusch D, Martiny A, Dupont C, Halpern A, Venter J
Proc Natl Acad Sci U S A
. 2010 Aug;
107(37):16184-9.
PMID: 20733077
Prochlorococcus describes a diverse and abundant genus of marine photosynthetic microbes. It is primarily found in oligotrophic waters across the globe and plays a crucial role in energy and nutrient...
10.
Drmanac R, Sparks A, Callow M, Halpern A, Burns N, Kermani B, et al.
Science
. 2009 Nov;
327(5961):78-81.
PMID: 19892942
Genome sequencing of large numbers of individuals promises to advance the understanding, treatment, and prevention of human diseases, among other applications. We describe a genome sequencing platform that achieves efficient...