Author: Kaitlin E Samocha

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Preprints

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

• Downloaded 26,367 times
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  • 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

• Downloaded 22,503 times
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  • 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

• Downloaded 11,641 times
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  • 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

• 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

• Downloaded 4,553 times
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  • 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

• Downloaded 4,074 times
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  • 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

• Downloaded 2,856 times
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  • 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

• 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

• Downloaded 2,544 times
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  • 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

• 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

• Downloaded 1,750 times
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  • 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

• Downloaded 1,610 times
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  • 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

• Downloaded 1,432 times
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  • 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

• 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

• Downloaded 1,248 times
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  • 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

• 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

• Downloaded 1,159 times
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  • 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

• 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

• 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

• Downloaded 907 times
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  • 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

• 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

• 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

• 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