D-Index & Metrics Best Publications

D-Index & Metrics D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines.

Discipline name D-index D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines. Citations Publications World Ranking National Ranking
Medicine D-index 81 Citations 60,221 254 World Ranking 11154 National Ranking 5847
Genetics D-index 81 Citations 60,472 253 World Ranking 962 National Ranking 468

Overview

What is he best known for?

The fields of study he is best known for:

  • Gene
  • Mutation
  • Genetics

Daniel G. MacArthur spends much of his time researching Genetics, Gene, Computational biology, Genome and Exome. His study in Genetic variation, Genomics, Exome sequencing, Allele and Human genome are all subfields of Genetics. His Genetic variation study combines topics from a wide range of disciplines, such as Human genetic variation, Autism spectrum disorder, Quantitative trait locus and DNA sequencing.

His Genomics study integrates concerns from other disciplines, such as Whole genome sequencing, Mutation and Bioinformatics. His studies in Gene integrate themes in fields like Actinin, Consanguinity and Skeletal muscle. The various areas that Daniel G. MacArthur examines in his Computational biology study include Indel, Transcriptome, 1000 Genomes Project, Genetic variants and Sequence.

His most cited work include:

  • A global reference for human genetic variation. (7825 citations)
  • Analysis of protein-coding genetic variation in 60,706 humans (6694 citations)
  • Analysis of protein-coding genetic variation in 60,706 humans (6694 citations)

What are the main themes of his work throughout his whole career to date?

His primary scientific interests are in Genetics, Gene, Computational biology, Exome sequencing and Exome. His Genetics study focuses mostly on Allele, Human genome, Mutation, Genome-wide association study and Allele frequency. Genetic variation, Phenotype, Transcriptome, Loss function and Exon are among the areas of Gene where the researcher is concentrating his efforts.

The Computational biology study combines topics in areas such as Human genetic variation, Genome, Genomics, Human genetics and DNA sequencing. His Exome sequencing research also works with subjects such as

  • Disease and Drug development most often made with reference to Bioinformatics,
  • Proband which intersects with area such as Missense mutation. His Exome research integrates issues from Gene knockout and Penetrance.

He most often published in these fields:

  • Genetics (71.39%)
  • Gene (45.39%)
  • Computational biology (41.13%)

What were the highlights of his more recent work (between 2018-2021)?

  • Computational biology (41.13%)
  • Gene (45.39%)
  • Genetics (71.39%)

In recent papers he was focusing on the following fields of study:

His primary areas of study are Computational biology, Gene, Genetics, Exome sequencing and Genome. Daniel G. MacArthur has included themes like Genomics, RNA splicing, Allele, Genetic variation and DNA sequencing in his Computational biology study. His studies deal with areas such as Genome-wide association study and Gene knockdown as well as Genetic variation.

In his study, which falls under the umbrella issue of DNA sequencing, Annotation is strongly linked to Human genetic variation. Daniel G. MacArthur combines subjects such as Proband, FOXP1, Nonsense mutation, Genetic heterogeneity and Haplotype with his study of Exome sequencing. His work in Genome addresses subjects such as Mutation rate, which are connected to disciplines such as Function.

Between 2018 and 2021, his most popular works were:

  • The mutational constraint spectrum quantified from variation in 141,456 humans. (1190 citations)
  • Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes (757 citations)
  • Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes (757 citations)

In his most recent research, the most cited papers focused on:

  • Gene
  • Mutation
  • Genetics

Daniel G. MacArthur focuses on Computational biology, Gene, Genome, Loss function and Genetic variation. His Computational biology research incorporates elements of Exome sequencing, Human genome, Allele, Exon and Human genetics. As part of the same scientific family, he usually focuses on Exome sequencing, concentrating on Mutation rate and intersecting with Function and DNA Mutational Analysis.

His Gene study frequently draws connections between adjacent fields such as Secretion. The study incorporates disciplines such as Haplotype and DNA sequencing in addition to Genome. Genomics is a subfield of Genetics that Daniel G. MacArthur investigates.

This overview was generated by a machine learning system which analysed the scientist’s body of work. If you have any feedback, you can contact us here.

Best Publications

A global reference for human genetic variation.

Adam Auton;Gonçalo R. Abecasis;David M. Altshuler;Richard M. Durbin.
(2015)

10791 Citations

Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek;Konrad J. Karczewski;Konrad J. Karczewski;Eric V. Minikel;Eric V. Minikel;Kaitlin E. Samocha.
Nature (2016)

8828 Citations

The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans

Kristin G. Ardlie;David S. Deluca;Ayellet V. Segrè.
Science (2015)

4276 Citations

The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski;Laurent C. Francioli;Grace Tiao;Beryl B. Cummings.
Nature (2020)

3715 Citations

Origins and functional impact of copy number variation in the human genome

Donald F. Conrad;Dalila Pinto;Richard Redon;Richard Redon;Lars Feuk;Lars Feuk.
Nature (2010)

2105 Citations

Transcriptome and genome sequencing uncovers functional variation in humans

Tuuli Lappalainen;Michael Sammeth;Marc R. Friedländer;Peter A. C. ‘t Hoen.
Nature (2013)

1813 Citations

The GTEx Consortium atlas of genetic regulatory effects across human tissues

F Aguet;AN Barbeira;R Bonazzola;A Brown.
Science (2020)

1516 Citations

Guidelines for investigating causality of sequence variants in human disease

D G MacArthur;T A Manolio;D P Dimmock;H L Rehm.
Nature (2014)

1234 Citations

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

Daniel G. MacArthur;Daniel G. MacArthur;Suganthi Balasubramanian;Adam Frankish;Ni Huang.
Science (2012)

1233 Citations

Mapping copy number variation by population-scale genome sequencing

Ryan E. Mills;Klaudia Walter;Chip Stewart;Robert E. Handsaker.
(2011)

1166 Citations

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