Author: Kaitlin E Samocha
- ORCiD: http://orcid.org/0000-0002-1704-3352
- Most recently observed institution: Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA
Rankings
- All-time downloads: 104,788 (rank: 2,056 )
- Categories:
- genetic and genomic medicine: 9,827 (rank: 227 )
- genetics: 24,460 (rank: 497 )
- genomics: 69,998 (rank: 177 )
Downloads per author, site-wide
Preprints
The mutational constraint spectrum quantified from variation in 141,456 humans
genomics more details view paper- Downloaded 26,367 times
- Download rankings, all-time:
- Site-wide: 416
- In genomics: 12
- Year to date:
- Site-wide: 10,977
- Since beginning of last month:
- Site-wide: 3,143
Analysis of protein-coding genetic variation in 60,706 humans
genomics more details view paper- Downloaded 22,503 times
- Download rankings, all-time:
- Site-wide: 504
- In genomics: 16
- Year to date:
- Site-wide: 70,560
- Since beginning of last month:
- Site-wide: 21,523
Regional missense constraint improves variant deleteriousness prediction
genomics more details view paper- Downloaded 11,641 times
- Download rankings, all-time:
- Site-wide: 1,142
- In genomics: 72
- Year to date:
- Site-wide: 886
- Since beginning of last month:
- Site-wide: 1,474
Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism
genetics more details view paper- Downloaded 11,105 times
- Download rankings, all-time:
- Site-wide: 1,215
- In genetics: 24
- Year to date:
- Site-wide: 13,918
- Since beginning of last month:
- Site-wide: 12,156
Integrating healthcare and research genetic data empowers the discovery of 28 novel developmental disorders
genomics more details view paper- Downloaded 4,553 times
- Download rankings, all-time:
- Site-wide: 3,965
- In genomics: 361
- Year to date:
- Site-wide: 50,966
- Since beginning of last month:
- Site-wide: 101,307
A cross-disorder dosage sensitivity map of the human genome
genetic and genomic medicine more details view paper- Downloaded 4,074 times
- Download rankings, all-time:
- Site-wide: 4,677
- In genetic and genomic medicine: 22
- Year to date:
- Site-wide: 4,896
- Since beginning of last month:
- Site-wide: 4,758
Reduced reproductive success is associated with selective constraint on human genes
genetics more details view paper- Downloaded 2,856 times
- Download rankings, all-time:
- Site-wide: 7,810
- In genetics: 293
- Year to date:
- Site-wide: 6,025
- Since beginning of last month:
- Site-wide: 34,020
Genetic risk factors have a substantial impact on healthy life years
genetic and genomic medicine more details view paper- Downloaded 2,552 times
- Download rankings, all-time:
- Site-wide: 9,275
- In genetic and genomic medicine: 53
- Year to date:
- Site-wide: 41,852
- Since beginning of last month:
- Site-wide: 35,377
Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders
genetics more details view paper- Downloaded 2,544 times
- Download rankings, all-time:
- Site-wide: 9,318
- In genetics: 358
- Year to date:
- Site-wide: 71,004
- Since beginning of last month:
- Site-wide: 94,086
Gene family information facilitates variant interpretation and identification of disease-associated genes
genetics more details view paper- Downloaded 1,876 times
- Download rankings, all-time:
- Site-wide: 14,819
- In genetics: 590
- Year to date:
- Site-wide: 15,052
- Since beginning of last month:
- Site-wide: 117,204
Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population
genetics more details view paper- Downloaded 1,750 times
- Download rankings, all-time:
- Site-wide: 16,509
- In genetics: 658
- Year to date:
- Site-wide: 117,838
- Since beginning of last month:
- Site-wide: 208,079
Refining the role of de novo protein truncating variants in neurodevelopmental disorders using population reference samples
genetics more details view paper- Downloaded 1,610 times
- Download rankings, all-time:
- Site-wide: 18,839
- In genetics: 752
- Year to date:
- Site-wide: 118,362
- Since beginning of last month:
- Site-wide: 151,634
Estimating the Selective Effect of Heterozygous Protein Truncating Variants from Human Exome Data
genomics more details view paper- Downloaded 1,432 times
- Download rankings, all-time:
- Site-wide: 22,683
- In genomics: 1,958
- Year to date:
- Site-wide: 169,231
- Since beginning of last month:
- Site-wide: 174,897
Integrating healthcare and research genetic data empowers the discovery of 49 novel developmental disorders
genomics more details view paper- Downloaded 1,357 times
- Download rankings, all-time:
- Site-wide: 24,766
- In genomics: 2,133
- Year to date:
- Site-wide: 50,308
- Since beginning of last month:
- Site-wide: 90,476
Base-Specific Mutational Intolerance Near Splice-Sites Clarifies Role Of Non-Essential Splice Nucleotides
genomics more details view paper- Downloaded 1,248 times
- Download rankings, all-time:
- Site-wide: 28,271
- In genomics: 2,411
- Year to date:
- Site-wide: 20,627
- Since beginning of last month:
- Site-wide: 205,983
Non-coding variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms
genetic and genomic medicine more details view paper- Downloaded 1,227 times
- Download rankings, all-time:
- Site-wide: 29,001
- In genetic and genomic medicine: 177
- Year to date:
- Site-wide: 65,563
- Since beginning of last month:
- Site-wide: 43,798
The ExAC Browser: Displaying reference data information from over 60,000 exomes
genomics more details view paper- Downloaded 1,159 times
- Download rankings, all-time:
- Site-wide: 31,764
- In genomics: 2,633
- Year to date:
- Site-wide: 95,264
- Since beginning of last month:
- Site-wide: 174,904
Schizophrenia risk conferred by protein-coding de novo mutations
genetics more details view paper- Downloaded 1,001 times
- Download rankings, all-time:
- Site-wide: 39,790
- In genetics: 1,576
- Year to date:
- Site-wide: 136,964
- Since beginning of last month:
- Site-wide: 89,943
Network analysis of genome-wide selective constraint reveals a gene network active in early fetal brain intolerant of mutation
genetics more details view paper- Downloaded 910 times
- Download rankings, all-time:
- Site-wide: 46,111
- In genetics: 1,793
- Year to date:
- Site-wide: 166,654
- Since beginning of last month:
- Site-wide: 207,996
Contribution of Retrotransposition to Developmental Disorders
genetics more details view paper- Downloaded 907 times
- Download rankings, all-time:
- Site-wide: 46,364
- In genetics: 1,810
- Year to date:
- Site-wide: 136,626
- Since beginning of last month:
- Site-wide: 180,034
The contribution of X-linked coding variation to severe developmental disorders
genetic and genomic medicine more details view paper- Downloaded 845 times
- Download rankings, all-time:
- Site-wide: 51,739
- In genetic and genomic medicine: 320
- Year to date:
- Site-wide: 124,525
- Since beginning of last month:
- Site-wide: 80,473
Genetic constraint at single amino acid resolution improves missense variant prioritisation and gene discovery
genetic and genomic medicine more details view paper- Downloaded 739 times
- Download rankings, all-time:
- Site-wide: 63,141
- In genetic and genomic medicine: 401
- Year to date:
- Site-wide: 26,727
- Since beginning of last month:
- Site-wide: 27,586
Optimising diagnostic yield in highly penetrant genomic disease
genetic and genomic medicine more details view paper- Downloaded 532 times
- Download rankings, all-time:
- Site-wide: 97,155
- In genetic and genomic medicine: 664
- Year to date:
- Site-wide: 8,528
- Since beginning of last month:
- Site-wide: 48,968
PanLingua
News
- 27 Nov 2020: The website and API now include results pulled from medRxiv as well as bioRxiv.
- 18 Dec 2019: We're pleased to announce PanLingua, a new tool that enables you to search for machine-translated bioRxiv preprints using more than 100 different languages.
- 21 May 2019: PLOS Biology has published a community page about Rxivist.org and its design.
- 10 May 2019: The paper analyzing the Rxivist dataset has been published at eLife.
- 1 Mar 2019: We now have summary statistics about bioRxiv downloads and submissions.
- 8 Feb 2019: Data from Altmetric is now available on the Rxivist details page for every preprint. Look for the "donut" under the download metrics.
- 30 Jan 2019: preLights has featured the Rxivist preprint and written about our findings.
- 22 Jan 2019: Nature just published an article about Rxivist and our data.
- 13 Jan 2019: The Rxivist preprint is live!