06a482a2120d4d85c7c34fb5038213e07f595554
max
  Tue Apr 21 15:00:21 2026 -0700
lrSv: add tommoJpCnv short-read CNV comparator (multiWig)

ToMMo 48KJPN-CNV Frequency Panel: copy-number variation frequencies
from short-read whole-genome sequencing of 48,874 Japanese individuals
(jMorp 20230828 release, GATK CNV germline workflow at 1 kb
resolution). Published as a companion short-read comparator to the
long-read tommoJpSv track.

Rendered as a multiWig container with two bigWig subtracks (transparent
overlay): tommoJpCnvLoss.bw counts samples at CN<2 per bin (red) and
tommoJpCnvGain.bw counts samples at CN>2 per bin (green). Values are
absolute carrier counts out of 48,874. 2,006,905 bins with at least one
CNV carrier; bins that are wholly CN=2 are omitted.

Files:
- trackDb/human/lrSv.ra: new tommoJpCnv multiWig container
- trackDb/human/tommoJpCnv.html: new doc page
- trackDb/human/lrSv.html: summary-table row + per-track blurb
- scripts/lrSv/lrSvTommoJpCnvVcfToBedGraph.py: VCF -> two bedGraphs
- doc/hg38/lrSv.txt: wget, converter invocation, bigWig build steps

refs #36258

Co-Authored-By: Claude Opus 4.7 (1M context) <noreply@anthropic.com>

diff --git src/hg/makeDb/trackDb/human/lrSv.html src/hg/makeDb/trackDb/human/lrSv.html
index 1eec6373f17..ebaced9d96e 100644
--- src/hg/makeDb/trackDb/human/lrSv.html
+++ src/hg/makeDb/trackDb/human/lrSv.html
@@ -1,449 +1,469 @@
 <h2>Description</h2>
 <p>
 This track collection contains structural variant (SV) calls derived from long-read sequencing
 studies. Structural variants are genomic rearrangements larger than ~50 bp, including
 deletions, insertions, duplications, inversions, and translocations. Long-read sequencing
 technologies can span repetitive regions and resolve complex rearrangements
 that are difficult to detect with short-read methods.
 </p>
 
 <h3>Available Datasets</h3>
 <p>
 SV length statistics (min / median / max) are computed from the <tt>svLen</tt>
 field of each track, in base pairs. Some tracks include sites with
 <tt>svLen=0</tt> (complex events where the reference and alternate alleles
 differ in sequence but not in length).
 </p>
 <p>
 All subtracks below are long-read callsets, except the last row (1KG 3202,
 Illumina short-read), which is included as a short-read comparator.
 </p>
 <table class="stdTbl">
 <tr>
   <th>Dataset</th>
   <th>N samples</th>
   <th>Cohort / disease</th>
   <th>Sequencing</th>
   <th>SVs</th>
   <th>Min</th>
   <th>Median</th>
   <th>Max</th>
 </tr>
 <tr>
   <td><a href="hgTrackUi?g=colorsDbSv">CoLoRSdb</a></td>
   <td>1,427</td>
   <td>Consortium of Long-Read Sequencing, joint callset</td>
   <td>PacBio HiFi</td>
   <td>426,239</td>
   <td>20</td>
   <td>33</td>
   <td>101,381</td>
 </tr>
 <tr>
   <td><a href="hgTrackUi?g=han945Sv">Han 945</a></td>
   <td>945</td>
   <td>Han Chinese, general population</td>
   <td>ONT (PromethION)</td>
   <td>111,288</td>
   <td>0</td>
   <td>254</td>
   <td>99,743</td>
 </tr>
 <tr>
   <td><a href="hgTrackUi?g=gustafsonSv">1KG ONT 100</a></td>
   <td>100</td>
   <td>1000 Genomes, 5 superpopulations / 19 subpopulations</td>
   <td>ONT (R9.4.1)</td>
   <td>113,696</td>
   <td>0</td>
   <td>164</td>
   <td>98,289</td>
 </tr>
 <tr>
   <td><a href="hgTrackUi?g=lrSv1kgOnt">1KG ONT Vienna</a></td>
   <td>1,019</td>
   <td>1000 Genomes, globally diverse</td>
   <td>ONT</td>
   <td>148,375</td>
   <td>2</td>
   <td>177</td>
   <td>49,171</td>
 </tr>
 <tr>
   <td><a href="hgTrackUi?g=tommoJpSv">ToMMo Japanese</a></td>
   <td>333 (111 trios)</td>
   <td>Japanese, general population</td>
   <td>ONT</td>
   <td>74,201</td>
   <td>51</td>
   <td>162</td>
   <td>99,980</td>
 </tr>
+<tr>
+  <td><a href="hgTrackUi?g=tommoJpCnv">ToMMo 48K CNV</a></td>
+  <td>48,874</td>
+  <td>Japanese, general population (<b>short-read comparator</b> for ToMMo long-read SVs)</td>
+  <td><b>Illumina short-read</b> (GATK CNV, 1 kb bins, shown as two bigWigs)</td>
+  <td colspan="4">~2M bins with CNV carriers; not comparable to per-SV counts above</td>
+</tr>
 <tr>
   <td><a href="hgTrackUi?g=aou1kSv">AoU 1K</a></td>
   <td>1,027</td>
   <td>All of Us, self-identified Black/African American</td>
   <td>PacBio HiFi</td>
   <td>541,049</td>
   <td>50</td>
   <td>152</td>
   <td>9,998</td>
 </tr>
 <tr>
   <td><a href="hgTrackUi?g=ga4kSv">GA4K</a></td>
   <td>502</td>
   <td>Children's Mercy, pediatric rare disease probands + families</td>
   <td>PacBio HiFi</td>
   <td>115,554</td>
   <td>50</td>
   <td>186</td>
   <td>809,711</td>
 </tr>
 <tr>
   <td><a href="hgTrackUi?g=decodeSv">deCODE 3,622</a></td>
   <td>3,622</td>
   <td>Icelandic general population</td>
   <td>ONT</td>
   <td>133,886</td>
   <td>0</td>
   <td>127</td>
   <td>861,080</td>
 </tr>
 <tr>
   <td><a href="hgTrackUi?g=hprc2Sv">HPRC v2</a></td>
   <td>233</td>
   <td>HPRC release-2 pangenome (CHM13 + diverse 1KG assemblies)</td>
   <td>PacBio HiFi (pangenome graph)</td>
   <td>1,483,114</td>
   <td>50</td>
   <td>280</td>
   <td>97,718</td>
 </tr>
 <tr>
   <td><a href="hgTrackUi?g=hgsvc2Sv">HGSVC2</a></td>
   <td>32</td>
   <td>HGSVC2 haplotype-resolved assemblies (5 superpopulations)</td>
   <td>PacBio CLR + HiFi + Strand-seq</td>
   <td>111,746</td>
   <td>50</td>
   <td>168</td>
   <td>57,207,414</td>
 </tr>
 <tr>
   <td><a href="hgTrackUi?g=hgsvc3Sv">HGSVC3</a></td>
   <td>65</td>
   <td>HGSVC3 diverse reference assemblies</td>
   <td>PacBio HiFi + ONT</td>
   <td>176,531</td>
   <td>50</td>
   <td>154</td>
   <td>30,176,500</td>
 </tr>
 <tr>
   <td><a href="hgTrackUi?g=kwanhoSv">Kim PD Brain</a></td>
   <td>100</td>
   <td>Parkinson's disease, ILBD, controls (post-mortem brain)</td>
   <td>PacBio HiFi</td>
   <td>74,552</td>
   <td>50</td>
   <td>160</td>
   <td>190,088,222</td>
 </tr>
 <tr>
   <td><a href="hgTrackUi?g=chirmade101Sv">SVatalog 101</a></td>
   <td>101</td>
   <td>Long-read WGS cohort for GWAS LD fine-mapping (SickKids)</td>
   <td>long-read</td>
   <td>87,183</td>
   <td>4</td>
   <td>160</td>
   <td>1,321,484</td>
 </tr>
 <tr>
   <td><a href="hgTrackUi?g=onekg3202Sr">1KG 3202 (short-read)</a></td>
   <td>3,202</td>
   <td>1000 Genomes expanded cohort (<b>short-read comparator</b>)</td>
   <td><b>Illumina short-read</b></td>
   <td>173,366</td>
   <td>1</td>
   <td>314</td>
   <td>154,807,729</td>
 </tr>
 </table>
 
 <h3>CoLoRSdb SVs (<a href="hgTrackUi?g=colorsDbSv">colorsDbSv</a>)</h3>
 <p>
 Structural variants from the Consortium of Long-Read Sequencing database
 (CoLoRSdb), from 1,427 PacBio HiFi long-read whole-genome sequences.
 426,239 SVs (insertions, deletions, inversions) called with pbsv and
 merged with Jasmine, with allele frequencies, genotype counts and
 Hardy-Weinberg statistics across the cohort.
 </p>
 
 <h3>Han 945 SVs (<a href="hgTrackUi?g=han945Sv">han945Sv</a>)</h3>
 <p>
 Structural variants from 945 Han Chinese individuals. 111,288 SVs
 (deletions, insertions, duplications, inversions, translocations) merged with SURVIVOR.
 Includes allele frequencies and per-sample support.
 </p>
 
 <h3>1KG ONT 100 SVs (<a href="hgTrackUi?g=gustafsonSv">gustafsonSv</a>)</h3>
 <p>
 Structural variants from Oxford Nanopore long-read sequencing of 100
 1000 Genomes samples (5 superpopulations, 19 subpopulations) released
 by the 1000 Genomes ONT Sequencing Consortium and described in
 Gustafson et al. 2024. 113,696 SVs (insertions, deletions, duplications,
 inversions) called with five callers and merged with Jasmine. This is a
-separate dataset from the Vienna 1KG-ONT release below.
+separate dataset from the Vienna 1KG-ONT release below; the 100 samples
+here do not overlap with the 1,019 samples in the Vienna release.
 </p>
 
 <h3>1KG ONT Vienna SVs (<a href="hgTrackUi?g=lrSv1kgOnt">lrSv1kgOnt</a>)</h3>
 <p>
 Structural variants from 1,019 individuals across 26 populations (1000 Genomes ONT).
 161,332 SVs annotated with SVAN, classifying insertions and deletions by mechanism
 of origin (mobile elements, VNTRs, processed pseudogenes, etc.).
 Original coordinates are on T2T-CHM13 (hs1); the hg38 version was created via liftOver.
+This is a separate dataset from the 1KG ONT 100 (Gustafson et al.) track above;
+the 1,019 samples here do not overlap with the 100 samples in that release.
 </p>
 
 <h3>ToMMo Japanese SVs (<a href="hgTrackUi?g=tommoJpSv">tommoJpSv</a>)</h3>
 <p>
 Structural variants from 333 Japanese individuals (111 trios) from the Tohoku Medical
 Megabank (ToMMo). 74,201 SVs (deletions and insertions) with trio-based Mendelian
 error rates and allele frequencies.
 </p>
 
+<h3>ToMMo 48K CNV SR (<a href="hgTrackUi?g=tommoJpCnv">tommoJpCnv</a>) - short-read comparator</h3>
+<p>
+<b>Short-read CNV comparator for the ToMMo long-read SV track above.</b>
+Per-1 kb-bin copy-number carrier counts from short-read whole-genome
+sequencing of 48,874 Japanese individuals (jMorp 48KJPN-CNV Frequency
+Panel, release 20230828), called with GATK CNV germline workflows.
+Shown as a multiWig overlay: red = samples with copy-number loss
+(CN&lt;2) per bin, green = samples with gain (CN&gt;2) per bin.
+</p>
+
 <h3>AoU 1K SVs (<a href="hgTrackUi?g=aou1kSv">aou1kSv</a>)</h3>
 <p>
 Structural variants from 1,027 individuals from the All of Us (AoU) Research Program,
 sequenced with PacBio HiFi long reads. 541,049 SVs (insertions and deletions)
 with population-specific allele frequencies, gene annotations, and clinical
 trait associations.
 </p>
 
 <h3>GA4K SVs (<a href="hgTrackUi?g=ga4kSv">ga4kSv</a>)</h3>
 <p>
 Structural variants from 502 probands and family members enrolled in the
 Genomic Answers for Kids (GA4K) pediatric rare-disease program at Children's
 Mercy Research Institute, sequenced with PacBio HiFi long reads. 115,554
 replicated SVs (deletions, insertions, duplications, inversions) called with
 pbsv and merged with JASMINE. The matched GA4K small-variant callset (SNVs
 and short indels) lives alongside other population allele-frequency resources
 as <a href="hgTrackUi?g=ga4kSnv">GA4K 552 PacBio LR</a> in the Variant
 Frequencies track collection.
 </p>
 
 <h3>deCODE 3,622 SVs (<a href="hgTrackUi?g=decodeSv">decodeSv</a>)</h3>
 <p>
 High-confidence structural variants from 3,622 Icelanders (deCODE genetics),
 sequenced with Oxford Nanopore long reads. 133,886 SVs (deletions, insertions
 and combined insertion/deletion events). Site-only callset with annotated
 surrounding tandem-repeat regions.
 </p>
 
 <h3>HPRC v2 SVs (<a href="hgTrackUi?g=hprc2Sv">hprc2Sv</a>)</h3>
 <p>
 Structural variants derived from the Human Pangenome Reference Consortium
 release-2 minigraph-cactus pangenome graph, built from 233 PacBio HiFi
 haplotype-resolved assemblies (CHM13 + diverse 1000 Genomes samples).
 1,483,114 SV-sized alleles (INS, DEL, COMPLEX, INV) extracted with
 <tt>vg deconstruct</tt> and decomposed with <tt>vcfwave</tt> (WFA2).
 </p>
 
 <h3>HGSVC2 32 SVs (<a href="hgTrackUi?g=hgsvc2Sv">hgsvc2Sv</a>)</h3>
 <p>
 Structural variants from 32 haplotype-resolved diploid genomes (HGSVC2
 freeze 4, Ebert et al. 2021). 111,746 SVs (deletions, insertions and
 inversions) called from phased de novo assemblies with PAV, with
 per-variant 1000 Genomes population allele frequencies (insertions and
 deletions) and rich structural/gene annotations. An earlier HGSVC release
 complementary to <a href="hgTrackUi?g=hgsvc3Sv">HGSVC3</a>.
 </p>
 
 <h3>HGSVC3 65 SVs (<a href="hgTrackUi?g=hgsvc3Sv">hgsvc3Sv</a>)</h3>
 <p>
 Structural variants from 65 diverse individuals sequenced and de novo
 assembled by the Human Genome Structural Variation Consortium phase 3
 (HGSVC3). 176,532 haplotype-resolved SVs (deletions, insertions and
 inversions) called with PAV and cross-validated with ten additional callers,
 with per-site carrier haplotype lists and structural annotations.
 </p>
 
 <h3>Kim PD Brain SVs (<a href="hgTrackUi?g=kwanhoSv">kwanhoSv</a>)</h3>
 <p>
 Structural variants from 100 post-mortem brain samples (Parkinson's disease,
 incidental Lewy body disease, and healthy controls) sequenced with PacBio
 HiFi long reads. 74,552 high-confidence SVs (deletions, insertions,
 duplications, inversions) with per-cohort allele frequencies and
 case-control carrier-rate differentials, from Kim et al. 2026.
 </p>
 
 <h3>SVatalog 101 SVs (<a href="hgTrackUi?g=chirmade101Sv">chirmade101Sv</a>)</h3>
 <p>
 Structural variants from 101 long-read whole-genome sequences released
 alongside the GWAS SVatalog tool (Chirmade et al. 2026). 87,183 SVs
 (deletions, insertions, duplications, inversions and complex events)
 annotated with gene overlaps, ClinGen / gnomAD constraint scores,
 OMIM / ClinVar / DGV / Decipher regional annotations.
 </p>
 
 <h3>1KG 3202 SVs (<a href="hgTrackUi?g=onekg3202Sr">onekg3202Sr</a>) - short-read comparator</h3>
 <p>
 <b>This is a short-read dataset, included for comparison only.</b>
 Structural variants from the expanded 1000 Genomes cohort of 3,202
 Illumina NovaSeq short-read whole genomes (Byrska-Bishop et al. 2022),
 called with the GATK-SV / svtools pipeline. 173,366 SVs (DEL, INS, DUP,
 INV, CPX, CNV, CTX) with per-superpopulation allele frequencies. Useful
 for contrasting short-read vs. long-read SV breakpoints and for spotting
 variants unique to long-read data.
 </p>
 
 <h2>Data Access</h2>
 <p>
 Each subtrack has its own documentation page with details on how to download
 and intersect the underlying annotations.
 </p>
 
 <h2>References</h2>
 
 <p>
 Gong J, Sun H, Wang K, Zhao Y, Huang Y, Chen Q, Qiao H, Gao Y, Zhao J, Ling Y <em>et al</em>.
 <a href="https://doi.org/10.1038/s41467-025-56661-9" target="_blank">
 Long-read sequencing of 945 Han individuals identifies structural variants associated with
 phenotypic diversity and disease susceptibility</a>.
 <em>Nat Commun</em>. 2025 Feb 10;16(1):1494.
 PMID: <a href="https://www.ncbi.nlm.nih.gov/pubmed/39929826" target="_blank">39929826</a>; PMC: <a
 href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11811171/" target="_blank">PMC11811171</a>
 </p>
 
 <p>
 Schloissnig S, Pani S, Ebler J, Hain C, Tsapalou V, S&#246;ylev A, H&#252;ther P, Ashraf H, Prodanov T,
 Asparuhova M <em>et al</em>.
 <a href="https://doi.org/10.1038/s41586-025-09290-7" target="_blank">
 Structural variation in 1,019 diverse humans based on long-read sequencing</a>.
 <em>Nature</em>. 2025 Aug;644(8076):442-452.
 PMID: <a href="https://www.ncbi.nlm.nih.gov/pubmed/40702182" target="_blank">40702182</a>; PMC: <a
 href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12350158/" target="_blank">PMC12350158</a>
 </p>
 
 
 <p>
 Otsuki A, Okamura Y, Ishida N, Tadaka S, Takayama J, Kumada K, Kawashima J, Taguchi K, Minegishi N,
 Kuriyama S <em>et al</em>.
 <a href="https://doi.org/10.1038/s42003-022-03953-1" target="_blank">
 Construction of a trio-based structural variation panel utilizing activated T lymphocytes and long-
 read sequencing technology</a>.
 <em>Commun Biol</em>. 2022 Sep 20;5(1):991.
 PMID: <a href="https://www.ncbi.nlm.nih.gov/pubmed/36127505" target="_blank">36127505</a>; PMC: <a
 href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9489684/" target="_blank">PMC9489684</a>
 </p>
 
 
 
 <p>
 Garimella KV, Li Q, Wertz J, Lee SK, Cunial F, Huang Y, Mostovoy Y, Lorig-Roach R, English A, Su H
 <em>et al</em>.
 <a href="https://doi.org/10.1101/2025.10.02.25336942" target="_blank">
 Population-scale Long-read Sequencing in the All of Us Research Program</a>.
 <em>medRxiv</em>. 2025 Oct 5;.
 PMID: <a href="https://www.ncbi.nlm.nih.gov/pubmed/41256123" target="_blank">41256123</a>; PMC: <a
 href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12622093/" target="_blank">PMC12622093</a>
 </p>
 
 
 
 <p>
 Cohen ASA, Farrow EG, Abdelmoity AT, Alaimo JT, Amudhavalli SM, Anderson JT, Bansal L, Bartik L,
 Baybayan P, Belden B <em>et al</em>.
 <a href="https://linkinghub.elsevier.com/retrieve/pii/S1098-3600(22)00653-0" target="_blank">
 Genomic answers for children: Dynamic analyses of &gt;1000 pediatric rare disease genomes</a>.
 <em>Genet Med</em>. 2022 Jun;24(6):1336-1348.
 PMID: <a href="https://www.ncbi.nlm.nih.gov/pubmed/35305867" target="_blank">35305867</a>
 </p>
 
 
 
 <p>
 Beyter D, Ingimundardottir H, Oddsson A, Eggertsson HP, Bjornsson E, Jonsson H, Atlason BA,
 Kristmundsdottir S, Mehringer S, Hardarson MT <em>et al</em>.
 <a href="https://doi.org/10.1038/s41588-021-00865-4" target="_blank">
 Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in
 human diseases and other traits</a>.
 <em>Nat Genet</em>. 2021 Jun;53(6):779-786.
 PMID: <a href="https://www.ncbi.nlm.nih.gov/pubmed/33972781" target="_blank">33972781</a>
 </p>
 
 
 
 <p>
 Logsdon GA, Ebert P, Audano PA, Loftus M, Porubsky D, Ebler J, Yilmaz F, Hallast P, Prodanov T, Yoo
 D <em>et al</em>.
 <a href="https://doi.org/10.1038/s41586-025-09140-6" target="_blank">
 Complex genetic variation in nearly complete human genomes</a>.
 <em>Nature</em>. 2025 Aug;644(8076):430-441.
 PMID: <a href="https://www.ncbi.nlm.nih.gov/pubmed/40702183" target="_blank">40702183</a>; PMC: <a
 href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12350169/" target="_blank">PMC12350169</a>
 </p>
 
 
 
 <p>
 Kim K, Lin Z, Simmons SK, Parker J, Kearney M, Liao Z, Haywood N, Zhang J, Cline MP, Tuncali I
 <em>et al</em>.
 <a href="https://doi.org/10.64898/2026.03.20.713192" target="_blank">
 Integrating Long-Read Structural Variant Analysis with single-nucleus RNA-seq to Elucidate Gene
 Expression Effects in Disease</a>.
 <em>bioRxiv</em>. 2026 Mar 23;.
 PMID: <a href="https://www.ncbi.nlm.nih.gov/pubmed/41929179" target="_blank">41929179</a>; PMC: <a
 href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13041997/" target="_blank">PMC13041997</a>
 </p>
 
 
 
 <p>
 Chirmade S, Wang Z, Mastromatteo S, Sanders E, Thiruvahindrapuram B, Nalpathamkalam T, Pellecchia G,
 Lin F, Keenan K, Patel RV <em>et al</em>.
 <a href="https://doi.org/10.1038/s41437-025-00809-2" target="_blank">
 GWAS SVatalog: a visualization tool to aid fine-mapping of GWAS loci with structural variations</a>.
 <em>Heredity (Edinb)</em>. 2026 Mar;135(3):199-210.
 PMID: <a href="https://www.ncbi.nlm.nih.gov/pubmed/41203876" target="_blank">41203876</a>; PMC: <a
 href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13031531/" target="_blank">PMC13031531</a>
 </p>
 
 
 
 <p>
 Gustafson JA, Gibson SB, Damaraju N, Zalusky MPG, Hoekzema K, Twesigomwe D, Yang L, Snead AA,
 Richmond PA, De Coster W <em>et al</em>.
 <a href="http://genome.cshlp.org/lookup/pmidlookup?view=long&amp;pmid=39358015" target="_blank">
 High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive
 catalog of human genetic variation</a>.
 <em>Genome Res</em>. 2024 Nov 20;34(11):2061-2073.
 PMID: <a href="https://www.ncbi.nlm.nih.gov/pubmed/39358015" target="_blank">39358015</a>; PMC: <a
 href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11610458/" target="_blank">PMC11610458</a>
 </p>
 
 
 
 <p>
 Ebert P, Audano PA, Zhu Q, Rodriguez-Martin B, Porubsky D, Bonder MJ, Sulovari A, Ebler J, Zhou W,
 Serra Mari R <em>et al</em>.
 <a href="https://www.science.org/doi/10.1126/science.abf7117" target="_blank">
 Haplotype-resolved diverse human genomes and integrated analysis of structural variation</a>.
 <em>Science</em>. 2021 Apr 2;372(6537).
 PMID: <a href="https://www.ncbi.nlm.nih.gov/pubmed/33632895" target="_blank">33632895</a>; PMC: <a
 href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8026704/" target="_blank">PMC8026704</a>
 </p>
 
 
 
 <p>
 Byrska-Bishop M, Evani US, Zhao X, Basile AO, Abel HJ, Regier AA, Corvelo A, Clarke WE, Musunuri R,
 Nagulapalli K <em>et al</em>.
 <a href="https://linkinghub.elsevier.com/retrieve/pii/S0092-8674(22)00991-6" target="_blank">
 High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602
 trios</a>.
 <em>Cell</em>. 2022 Sep 1;185(18):3426-3440.e19.
 PMID: <a href="https://www.ncbi.nlm.nih.gov/pubmed/36055201" target="_blank">36055201</a>; PMC: <a
 href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9439720/" target="_blank">PMC9439720</a>
 </p>