Author: Kaitlin E Samocha

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Preprints

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

• Downloaded 24,863 times
• Download rankings, all-time:
  • Site-wide: 305
  • In genomics: 11
• Year to date:
  • Site-wide: 2,815
• Since beginning of last month:
  • Site-wide: 17,768

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

• Downloaded 22,118 times
• Download rankings, all-time:
  • Site-wide: 351
  • In genomics: 13
• Year to date:
  • Site-wide: 28,890
• Since beginning of last month:
  • Site-wide: 48,560

Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism

• Downloaded 10,415 times
• Download rankings, all-time:
  • Site-wide: 909
  • In genetics: 23
• Year to date:
  • Site-wide: 8,350
• Since beginning of last month:
  • Site-wide: 34,495

Regional missense constraint improves variant deleteriousness prediction

• Downloaded 8,989 times
• Download rankings, all-time:
  • Site-wide: 1,080
  • In genomics: 81
• Year to date:
  • Site-wide: 1,982
• Since beginning of last month:
  • Site-wide: 3,643

Integrating healthcare and research genetic data empowers the discovery of 28 novel developmental disorders

• Downloaded 4,108 times
• Download rankings, all-time:
  • Site-wide: 3,116
  • In genomics: 322
• Year to date:
  • Site-wide: 12,566
• Since beginning of last month:
  • Site-wide: 21,750

Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders

• Downloaded 2,411 times
• Download rankings, all-time:
  • Site-wide: 6,661
  • In genetics: 292
• Year to date:
  • Site-wide: 97,852
• Since beginning of last month:
  • Site-wide: 48,804

A cross-disorder dosage sensitivity map of the human genome

• Downloaded 2,227 times
• Download rankings, all-time:
  • Site-wide: 7,482
  • In genetic and genomic medicine: 31
• Year to date:
  • Site-wide: 1,066
• Since beginning of last month:
  • Site-wide: 3,842

Sex-biased reduction in reproductive success drives selective constraint on human genes

• Downloaded 2,118 times
• Download rankings, all-time:
  • Site-wide: 8,025
  • In genetics: 352
• Year to date:
  • Site-wide: 8,870
• Since beginning of last month:
  • Site-wide: 9,073

Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population

• Downloaded 1,681 times
• Download rankings, all-time:
  • Site-wide: 11,303
  • In genetics: 506
• Year to date:
  • Site-wide: 140,402
• Since beginning of last month:
  • Site-wide: None

Gene family information facilitates variant interpretation and identification of disease-associated genes

• Downloaded 1,674 times
• Download rankings, all-time:
  • Site-wide: 11,385
  • In genetics: 510
• Year to date:
  • Site-wide: 94,985
• Since beginning of last month:
  • Site-wide: None

Refining the role of de novo protein truncating variants in neurodevelopmental disorders using population reference samples

• Downloaded 1,489 times
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  • Site-wide: 13,493
  • In genetics: 617
• Year to date:
  • Site-wide: 105,177
• Since beginning of last month:
  • Site-wide: None

Estimating the Selective Effect of Heterozygous Protein Truncating Variants from Human Exome Data

• Downloaded 1,343 times
• Download rankings, all-time:
  • Site-wide: 15,789
  • In genomics: 1,570
• Year to date:
  • Site-wide: 123,898
• Since beginning of last month:
  • Site-wide: None

Integrating healthcare and research genetic data empowers the discovery of 49 novel developmental disorders

• Downloaded 1,198 times
• Download rankings, all-time:
  • Site-wide: 18,722
  • In genomics: 1,823
• Year to date:
  • Site-wide: 84,310
• Since beginning of last month:
  • Site-wide: 112,313

Base-Specific Mutational Intolerance Near Splice-Sites Clarifies Role Of Non-Essential Splice Nucleotides

• Downloaded 1,160 times
• Download rankings, all-time:
  • Site-wide: 19,646
  • In genomics: 1,905
• Year to date:
  • Site-wide: 139,432
• Since beginning of last month:
  • Site-wide: None

The ExAC Browser: Displaying reference data information from over 60,000 exomes

• Downloaded 1,089 times
• Download rankings, all-time:
  • Site-wide: 21,537
  • In genomics: 2,061
• Year to date:
  • Site-wide: 144,626
• Since beginning of last month:
  • Site-wide: None

Non-coding variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms

• Downloaded 952 times
• Download rankings, all-time:
  • Site-wide: 26,263
  • In genetic and genomic medicine: 103
• Year to date:
  • Site-wide: 15,700
• Since beginning of last month:
  • Site-wide: 80,031

Schizophrenia risk conferred by protein-coding de novo mutations

• Downloaded 874 times
• Download rankings, all-time:
  • Site-wide: 29,602
  • In genetics: 1,359
• Year to date:
  • Site-wide: 94,804
• Since beginning of last month:
  • Site-wide: 110,374

Network analysis of genome-wide selective constraint reveals a gene network active in early fetal brain intolerant of mutation

• Downloaded 852 times
• Download rankings, all-time:
  • Site-wide: 30,672
  • In genetics: 1,412
• Year to date:
  • Site-wide: 150,737
• Since beginning of last month:
  • Site-wide: None

Contribution of Retrotransposition to Developmental Disorders

• Downloaded 800 times
• Download rankings, all-time:
  • Site-wide: 33,489
  • In genetics: 1,536
• Year to date:
  • Site-wide: 141,739
• Since beginning of last month:
  • Site-wide: None

The contribution of X-linked coding variation to severe developmental disorders

• Downloaded 679 times
• Download rankings, all-time:
  • Site-wide: 41,910
  • In genetic and genomic medicine: 164
• Year to date:
  • Site-wide: 50,578
• Since beginning of last month:
  • Site-wide: 77,395